Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Eye and Systemic Disease_Wright, Spiegel, Thompson_2006

TABLE 10-2. (continued).

Adams–Oliver Syndrome MIM *100300 Inheritance: autosomal dominant. More than 80 cases reported.

General Description: aplasia cutis congenita over the posterior parietal region of the scalp, with or without underlying defect of bone (the skull and scalp defects usually heal spontaneously), terminal transverse defects of limbs, short fingers, small toenails, mild growth deficiency, cutis marmorata

Ocular Findings: occasional esotropia, microphthalmia

Aicardi’s Syndrome MIM *304050 Gene map locus: Xp22. Inheritance: X-linked dominant (lethal in the hemizygous male). Over 200 cases, all females, with the exception of one male with XXY karyotype.

General Description: a definite diagnosis requires presence of the three following major features: infantile spasms or seizure activity, absent corpus callosum (usually with other brain malformations), and characteristic chorioretinal “lacunar” lesions. Most patients with Aicardi syndrome die in the first decade of life, usually from recurrent pneumonia.

Ocular Findings

Common: the chorioretinal lesions of Aicardi syndrome are characteristic. The lesions are discrete yellow-white, round, well-defined, excavated (lacunar) lesions with sharp borders and minimal pigmentation along their edges. They are bilateral and most frequently found around the optic nerve head and in the posterior pole. The lesions decrease in size and number toward the peripheral fundus. The sensory retina may be completely absent in the “lacuna.”

Less common: unilateral or bilateral microphthalmia, retrobulbar cysts, diminished size of optic nerves and chiasma, gliosis at the nerve head, persistence of the hyaloid system of blood vessels, persistence of the pupillary membrane, posterior synechiae, chorioretinal colobomata at the disc or in the inferior fundus, retinal detachment, sixth cranial nerve palsy, nystagmus.

Albright Hereditary Osteodystrophy MIM #103580, 203330, 300800 Gene map locus: 20q13.2. Inheritance: autosomal dominant, autosomal recessive, and X- linked respectively. Over 50 kindreds (2:1 female-to-male ratio).

General Description: short stature, obesity, mental deficiency, brachydactyly with short metacarpals, rounded facies, hypocalcemia, mineralization in subcutaneous tissues and basal ganglia (pseudohypoparathyroidism)

Ocular Findings: cataract (peripheral lenticular opacities), corneal opacities, macular degeneration, nystagmus, anisocoria, optic nerve swelling, optic atrophy, tortuosity of vessels, diplopia, microphthalmia, hypertelorism

Anophthalmia with Limb Anomalies Waardenburg Anophthalmia Syndrome

MIM *206920 Inheritance: autosomal recessive. Twenty-one cases reported.

General Description: distal limb abnormalities such as syndactyly, camptodactyly, hypodactyly, or other deformities of the hands and/or feet. Mental retardation may occur. Occasionally, widely spaced nipples and genitourinary malformations.

Ocular Findings: unilateral or bilateral clinical anophthalmia

Antley–Bixler Syndrome Trapezoidocephaly-Synostosis Syndrome MIM *207410 Inheritance: autosomal recessive. Approximately 12 cases.

(continued)

TABLE 10-2. Ocular and Systemic Findings in Selected Inherited Syndromes (continued).

General Description: craniosynostosis, brachycephaly, frontal bossing, severe midface hypoplasia, dysplastic ears, camptodactyly, radiohumeral synostosis, femoral bowing/fractures, choanal stenosis/atresia

Ocular Findings: proptosis (100%)

Apert Syndrome Acrocephaloysyndactyly Type 1 MIM #101200 Gene map locus: 10q26. Inheritance: autosomal dominant. Incidence 1:100,000–160,000 births.

General Description: craniosynostosis: acrocephalic skull (a wide midline calvarial defect, which is gradually filled by islands of bone in the 2 to 4 years after birth until the gap is obliterated. No true sagittal or metopic sutures are ever formed. The coronal sutures are generally fused at birth). The brain is typically megalocephalic. A significant proportion of patients are mentally retarded. High forehead with depressed nasal bridge, beaked nose, hypoplastic midface, asymmetrical face, downturned mouth, prominent mandible, narrow and higharched palate, lateral palatal swellings, clefting of the soft palate (30%), crowded upper teeth. Symmetrical mitten-type partial to complete syndactyly of digits, most often digits 2, 3, and 4, in hands and feet. Brachydactyly, aplasia, or ankyloses of joints, most commonly the shoulder, hip, and elbow. Cardiovascular defects (10%), genitourinary defects (10%), respiratory defects (1.5%), and gastrointestinal defects (1.5%).

Ocular Findings

Common: shallow bony orbits that lead to significant ocular proptosis, hypertelorism, down-slanting palpebral fissures, a horizontal groove above the supraorbital ridges, V-pattern exotropia, abnormal origins, size or insertion of ocular muscles.

Less common: absence of superior rectus muscle, albinotic appearance of the fundus including depigmentation of the fundus and absence of foveal reflexes although vision is not markedly impaired and pendular nystagmus is absent. Optic atrophy, keratoconus, glaucoma, and subluxation of the globe are occasionally seen.

Arteriohepatic Dysplasia Alagille Syndrome MIM #118450 Gene map locus: 20p12. Inheritance: autosomal dominant. More than 100 cases reported.

General Description: at least three of the following five primary clinical criteria should be present: 1, cholestasis (91%) due to paucity of intrahepatic interlobular bile ducts; 2, characteristic facies (95%) consisting of triangular chin, prominent forehead, long straight nose with flat tip, and flat midface; 3, posterior embryotoxon; 4, butterfly vertebrae (hemivertebrae); and 5, cardiac findings, most often pulmonary artery stenosis (85%)

Ocular Findings

Common: Anterior segment dysgenesis including prominent posterior embryotoxon (88%), or Axenfeld–Rieger anomaly. Up to 90% of patients have unilateral optic nerve head drusen and as many as 65% have bilateral drusen. If patients have elevated serum cholesterol levels, arcus juvenilis may develop.

Less common: retinal pigment clumping, chorioretinal atrophy (when retinal changes are present, the electroretinogram findings are consistent with rodcone dystrophy), choroidal folds, marked tortuosity of the retinal vessels, strabismus, myopia. Keratoconus is a rare associated finding.

TABLE 10-2. (continued).

Ataxia-Telangiectasia Syndrome Louis–Bar Syndrome MIM *208900, 208910 Gene map locus: 11q22.3. Inheritance: autosomal recessive. Incidence 1:30,000–100,000 live births.

General Description: onset of rapidly progressive cerebellar ataxia at 1 to 2 years of age, with subsequent development of choreoathetosis, dysarthrai, and dystomia. Slow regression of intellectual milestones may occur. Bilateral conjunctival telangiectasia develop between 3 to 7 years of age followed by cutaneous telangiectasia. Deficiency in cellular immunity with thymic hypoplasia, low or absent serum and secretory IgA serum IgE, and IgG, normal to elevated levels of low-molecular-weight IgM. Frequent sinusitis, pneumonia, bronchiectasis, and skin infections. Increased rate of lymphoma, leukemia, and other neoplasms. Drying of skin and loss of hair, particularly when exposed to ultraviolet radiation. Endocrine dysfunction with glucose intolerance, hypogonadism with delayed sexual maturation, and growth retardation is often found. Sinopulmonary infection is a major cause of mortality. Death occurs during the second decade of life.

Ocular Findings: telangiectasia of the conjunctiva develops in all patients beginning between the ages of 3 and 7 years. Involvement is initially interpalpebral away from the limbus, eventually becoming generalized. Ocular motor abnormalities are common. Characteristically, the ability to initiate saccades is poor, very similar to the findings of congenital ocular motor apraxia. Strabismus and nystagmus may also be present.

Axenfeld–Rieger Anomaly with Atrial Septal Defect and Sensorineural Hearing Loss MIM *602482. Inheritance: autosomal dominant. One family.

General Description: atrial septal defect and sensorineural hearing loss.

Ocular Findings: Axenfeld’s–Reiger anomaly (consists of anterior segment dysgenesis resulting in hypoplasia of the anterior iris stroma, posterior embryotoxon, abnormal iris strands crossing the anterior chamber angle to attach to a prominent Schwalbe’s line), glaucoma (60%)

Axenfeld–Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities MIM 109120. Inheritance: autosomal dominant. One family.

General Description: prominent forehead, flat midface, mild sensorineural deafness, communicating hydrocephalus, psychomotor retardation, flat femoral epiphyses.

Ocular Findings: Axenfeld’s-Reiger anomaly (consists of anterior segment dysgenesis resulting in hypoplasia of the anterior iris stroma, posterior embryotoxon, abnormal iris strands crossing the anterior chamber angle to attach to a prominent Schwalbe’s line), glaucoma (60%), absent eye muscles, proptosis, hypertelorism

Baller–Gerold Syndrome Craniosynostosis-Radial Aplasia Syndrome MIM 218600 Inheritance: autosomal recessive. Over 20 cases reported.

General Description: craniosynostosis of one or more sutures (any of the cranial sutures may be affected). Preaxial upper limb abnormalities: aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius (bilateral in over 90% of cases), short curved ulna, missing carpals, metacarpals, and phalanges,

(continued)

TABLE 10-2. Ocular and Systemic Findings in Selected Inherited Syndromes (continued).

fused carpals. Prenatal and postnatal growth deficiency. Vertebral anomalies (30%). A wide variety of internal malformations most frequently affect the anus, urogenital system, heart, and central nervous system.

Ocular Findings

Common: down-slanting palpebral fissures, epicanthal folds, hypertelorism Less common: exotropia, ectropion, nystagmus, high myopia, optic atrophy

Bannayan–Riley–Ruvalcaba Syndrome Ruvalcaba–Myhre Syndrome, Riley–Smith Syndrome, Bannayan Syndrome MIM #153480 Gene map locus: 10q23.3. Inheritance: autosomal dominant. Fifteen kinships reported.

General Description: macrocephaly with ventricles of normal size, ileal and colonic hamartomatous polyps (45%), subcutaneous/cranial (20%)/osseous (10%) hamartomas that are lipomas (75%), hemangiomas (10%), or mixed type (20%). Cutis marmorata, skin telangiectases, enlarged penis, hemangiomas, or mixed pigmentary changes of the penis.

Ocular Findings

Common: down-slanting palpebral fissures (60%), pseudo-papilledema

Less common: prominent Schwalbe lines and prominent corneal nerves (35%), hypertelorism may be associated with midfacial hypoplasia, strabismus (15%), anisometropia

Bardet–Biedl Syndrome type I–VI Laurence–Moon–Bardet–Biedl Syndrome MIM *209901, *209900, *600151, *600374, *603650, #605231 Gene map loci include: 11q13, 16q21, 3p13–p12, 15q22.3–q23, 2q31, and 20p12, respectively. Inheritance: autosomal recessive. Incidence: 1:100,000.

General Description: truncal obesity, short stature, polydactyly, hypogenitalism, hypogonadism, mental retardation, renal anomalies, dental anomalies, occasional congenital heart disease. (In Laurence–Moon syndrome, there is spastic paraplegia, and absence of obesity and polydactyly. In Alstrom syndrome (*203800) there is retinitis pigmentosa, obesity, diabetes mellitus and perceptive deafness. In Biemond syndrome II (210350) there is iris coloboma, hypogenitalism, obesity, polydactyly, and mental retardation).

Ocular Findings

Common: Progressive cone-rod retinal dystrophy begins in childhood and progresses to severe visual loss and a marked constriction of visual fields usually by age 30 years (90–100%). The retinal degeneration is not a typical retinitis pigmentosa in that hyperpigmentation is not a prominent feature, rather, there is coarse granularity of the periphery. The macula is often involved early with atropic and pigmentary changes, sometimes in a bull’s-eye configuration. Optic nerve pallor and arteriolar narrowing occur. The electroretinogram is nonrecordable in early childhood. Myopia (75%), astigmation (63%), nystagmus (52%). By age twenty, 73% of patients are blind.

Less common: glaucoma (22%), posterior capsular cataract (44%), mature cataract (30%), typical retinitis pigmentosa (8%).

Beals’ Syndrome Contractual Arachnodactyly, Congenital MIM *121050 Gene map locus: 5q23–q31. Inheritance: autosomal dominant. Twenty families and over 13 isolated cases reported.

TABLE 10-2. (continued).

General Description: long slim limbs (dolichostenomlia) with arachnodactyly (86%), camptodactyly (78%), joint contractures especially of knees, elbows, and hips, “crumpled” ears with poorly defined conchas and prominent crura from the root of the helix (75%).

Ocular Findings: ectopia lentis, iris coloboma, keratoconus, and myopia have been reported

Beckwith–Wiedemann Syndrome Exomphalos-Macroglossia-Gigantism Syndrome

MIM #130650, *602631, *603240 Gene map locus: 11p15.5. Inheritance: autosomal dominant, many sporadic. Approximately 200 cases reported.

General Description: macroglossia, capillary nevus flammeus of central forehead and eyelids, macrosomia, ear creases, accelerated osseous maturation, omphalocele, neonatal polycythemia, hypoglycemia in early infancy, cardiovascular defects, large kidneys with renal medullary dysplasia, pancreatic hyperplasia, fetal adrenocortical cytomegaly, occasional hemihypertrophy. An increased risk of malignancy seems to be associated with those who have hemihypertrophy.

Ocular Findings: prominent eyes with relative infraorbital hypoplasia, capillary nevus flammeus of central forehead and eyelids

Berardinelli–Lipodystrophy Syndrome Berardinelli–Seip Congenital Lipodystrophy Syndrome MIM *269700 Gene map locus: 9q34. Inheritance: autosomal recessive. Rare disorder.

General Description: accelerated growth and maturation, enlargement of hands and feet, phallic enlargement, hypertrophy of muscles, lack of metabolically active adipose tissue from early life with sparing of mechanical adipose tissue such as in the orbits, palms, tongue, and scalp. Coarse skin with hyperpigmentation, hepatomegaly, hyperlipidemia, hypertriglyceridemia, insulin-resistant diabetes mellitus.

Ocular Findings: occasional corneal opacities

Blepharophimosis Syndrome (BPS) Type I, II, III Familial Blepharophimosis Syndrome MIM #110100, *601649 Gene map loci: 3q23 (types I and II), 7p21–p13 (type III). Inheritance: autosomal dominant. More than 150 families reported.

General Description: Type I is associated with infertility in affected females whereas type II is not. Both may be associated with incomplete development of the ears, malar hypoplasia, poorly developed nasal bridge, and variable hypotonia in early life.

Ocular Findings

Common: blepharophimosis (reduction of the palpebral fissure in the horizontal axis from the normal of 25–30 mm to 20–22 mm). Ptosis of the upper eyelid, and epicanthus inversus. In most patients there is an increased length of the medial canthal ligament resulting in telecanthus. Ptosis is present at birth and is typically associated with absent or poor levator function and no eyelid fold. To compensate for the ptosis, patients assume a characteristic head posture with chin elevation and furrowing of the eyebrows. The upper eyelid margin is characteristically S-shaped while the lower eyelid margin has abnormal downward concavity, with or without slight ectropion. The eyelids are smooth

(continued)

TABLE 10-2. Ocular and Systemic Findings in Selected Inherited Syndromes (continued).

and inelastic with skin deficiency in both the upper and lower lids and there is often hypoplasia of the tarsal plates of the upper eyelids. Trichiasis and hypoplastic appearance of the caruncle and plica semilunaris are common. Of the four types of epicanthal folds, epicanthus inversus is the most common form associated with BPS. The eyebrows are increased in their vertical height and are arched.

Less common: microphthalmia, anophthalmia, microcornea, cataract, angle dysgenesis, optic disc coloboma, optic nerve hypoplasia, optic atrophy, superior rectus underaction with limitation of upgaze, divergent strabismus, nystagmus, hypermetropia

Borjeson–Forssman–Lehmann Syndrome MIM *301900 Gene map locus: Xq26.3. Inheritance: X-linked recessive. Five families reported.

General Description: large ears, hypogonadism, severe mental deficiency, seizures, marked obesity, hypometabolism, swollen subcutaneous facial tissue

Ocular Findings: nystagmus, ptosis, poor vision, retinal and/or optic nerve abnormalities, narrow palpebral fissures, deep-set eyes

Boston-Type Cranisynostosis MIM #604757 Gene map locus: 5q34–q35. Inheritance: autosomal dominant. Nineteen cases reported.

General Description: frontal bossing, frontoorbital recession, turribrachycephaly, and cloverleaf skull. Intelligence is normal. Short but not broad, first metatarsals. Cleft of soft palate and triphalangeal thumb each occurred in only one individual.

Ocular Findings

Common: myopia, hyperopia

Less common: visual field defects

Brachmann–de Lange Syndrome Cornelia de Lange Syndrome MIM 122470 Gene map locus: 3q26.3. Inheritance: most cases are sporadic. Incidence: 1:10,000 live births.

General Description: physical and mental retardation, hirsutism, synophrys, microcephaly, long or protruding philtrum, anteverted nostrils, small or grossly malformed hands, cutis marmorata

Ocular Findings: bushy eyebrows and synophrys (98%), long curly eyelashes (99%), myopia, ptosis, and nystagmus.

Branchio-Oculo-Facial Syndrome MIM *113620 Inheritance: autosomal dominant. Over 30 cases reported.

General Description: characteristic cervical/infra-auricular skin defects including aplastic/hemangiomatous lesions and sinus/fistulous tracts (45%). Abnormal upper lip (90%) (pseudocleft, incomplete or complete cleft lip), dental anomalies, micrognathia, conductive hearing loss (71%), low-set/posteriorly rotated/overfolded and/or malformed ears, premature graying of hair (70%), renal malformations, developmental delay (25%), hypotonia, growth deficiency (50%)

Ocular Findings

Common: nasolacrimal duct obstruction with recurrent dacryocystitis (75%), telecanthus (58%), coloboma (47%), microphthalmia/anophthalmia (44%), upslanting palpebral fissures (48%), myopia (46%)

TABLE 10-2. (continued).

Less common: ptosis, orbital hemangiomatous cyst, cataract, strabismus, orbital dermoids

Campomelic Dysplasia MIM *114290 Gene map locus: 17q24.3–q25.1. Inheritance: autosomal dominant. Over 100 cases reported. Most patients die in infancy.

General Description: short limb dwarfism of prenatal onset with retarded osseous maturation, large head, large brain with gross cellular disorganization, flat facies, cleft palate, malformed and/or low-set ears, bowed tibiae, hypoplastic scapula, XY gonadal dysgenesis (ovarian, mullerian duct, and vaginal development in some of the affected XY individuals)

Ocular Findings: short palpebral fissures, hypertelorism

Camurati–Engelmann Syndrome Progressive Diaphyseal Dysplasia MIM #131300 Gene map locus: 19q13.1. Inheritance: autosomal dominant. More than 100 cases reported.

General Description: progressive diaphyseal dysplasia, thickening of the bone, and narrowing of the medullary canal. Sclerosis of skull base, weakness, leg pain

Ocular Findings: occasional exophthalmos. Hyperostosis may progress to cause optic nerve compression.

Cardio-Facio-Cutaneous Syndrome CFC Syndrome MIM #115150 Gene map locus: 12q24. Inheritance: autosomal dominant. More than 35 cases reported.

General Description: congenital heart defects (77%), sparse, curly, and slowgrowing hair (100%), abnormalities of skin (95%) varying from severe atopic dermatitis to hyperkeratosis, frontal bossing, mental retardation, hypotonia, postnatal growth deficiency, relative macrocephaly with large prominent forehead and bitemporal narrowing

Ocular Findings: lack of eyebrows and eyelashes, nystagmus, strabismus, shallow orbital ridges (100%), down-slanting palpebral fissures (71%), hypertelorism (84%), ptosis (53%), exophthalmos (55%)

Carpenter Syndrome Acrocephalopolysyndactyly Type 2 MIM *201000 Inheritance: autosomal recessive. More than 40 cases reported.

General Description: craniosynostosis (multiple sutures are usually involved, often beginning with the sagittal and lambdoid sutures, causing marked asymmetry and acrocephaly). Intellectual impairment (75%). The fingers are typically short, with varying degree of soft tissue syndactyly. The feet often have preaxial polydactyly, and each toe has only two phalanges. Congenital heart defects (33%) including atrial and ventricular septal defects, patent ductus arteriosus, pulmonic stenosis, and tetralogy of Fallot. The ears are lowset and may have minor abnormalities such as preauricular pits.

Ocular Findings

Common: hypoplastic supraorbital ridges, hypertelorism, shallow orbits, lateral displacement of the inner canthi, down-slanting palpebral fissures, epicanthal folds

Less common: corneal opacity, microcornea optic nerve atrophy, blurring of disc margins. Conjugate downward movements alternating with horizontal and vertical nystagmus, foveal hypoplasia, and posterior embroyotoxon have been reported.

(continued)

TABLE 10-2. Ocular and Systemic Findings in Selected Inherited Syndromes (continued).

Cat-Eye Syndrome (CES) Schmid–Fraccaro Syndrome, Coloboma of Iris-Anal Atresia Syndrome MIM #115470 Gene map locus: 22q11. Inheritance: autosomal dominant. Over 40 cases reported.

General Description: mild mental deficiency, preauricular pits or tags, micrognathia, cleft palate, cardiac defects (33%), hearing impairment, anal atresia with rectovestibular fistula, renal agenesis, cryptorchidism, hemivertebrae, and failure to thrive. Anal atresia and coloboma of iris, initially considered the hallmarks of this disorder, are present in combination in only a minority of patients.

Ocular Findings

Common: inferior coloboma of iris (common but not obligate), choroid and/or retina. The coloboma can involve the posterior segment with or without iris involvement. Mild hypertelorism, down-slanting palpebral fissures, epicanthal folds.

Less common: microphthalmia. Various forms of Duane syndrome have been reported. Poor vision has been reported.

Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome Pena–Shokeir Syndrome, Type II

MIM #214150 Gene map locus: 10q11. Inheritance: autosomal recessive. Rare disorder.

General Description: brain degenerative disorder with reduced white matter, microgyria, agenesis of corpus callosum, microcephaly, hypotonia, hyporeflexia or areflexia, neurogenic arthrogryposis (persistent flexure or contracture of a joint) especially in the elbows and knees. Rocker-bottom feet, camptodactyly, hirsutism, wide-set nipples, micrognathia, upper lip overlapping lower lip. The course of the disorder is progressive deterioration, with little growth and cachexia, ending in death. Survival is usually under 5 years.

Ocular Findings: hypoplasia of optic tracts and chiasm, microphthalmia, nystagmus, cataract (may be infantile), blepharophimosis with deep-set eyes

Cervico-Oculo-Acoustic Syndrome Wildervanck Syndrome MIM 314600 Inheritance: unknown (sporadic cases). The frequency among children with hearing loss is 1%. The vast majority of affected individuals have been females.

General Description: Klippel–Feil anomaly (fusion of two or more cervical and sometimes thoracic vertebrae), short neck, facial asymmetry, low hairline, malformed vestibular labyrinth, preauricular tags and pits, sensorineural, conductive or mixed hearing loss

Ocular Findings: Duane syndrome, epibulbar dermoids. Occasionally, pseudopapilledema.

CHARGE Association MIM 214800 Inheritance: sporadic in most cases (familial recurrence has been reported). Over 50 cases reported.

General Description: the acronym CHARGE has been used to represent the major features of this condition: Coloboma of the eye or eye defects, Heart disease, choanal Atresia, Retarded growth and development with or without central nervous system anomalies, Genital hypoplasia, and Ear anomalies with or without deafness. Four of the six major findings are generally required for diagnosis. Additional abnormalities include seventh cranial nerve palsy (up to 45%), and facial clefts.

TABLE 10-2. (continued).

Ocular Findings

Common: microphthalmia and colobomatous malformation sequence (80%): unilateral or bilateral colobomas of the iris, choroids, retina, or optic nerve. Visual impairment and retinal detachment can occur. It is estimated that 15%–30% of patients with microphthalmia/coloboma have CHARGE association.

Less common: strabismus, seventh cranial nerve palsy (up to 45%). Clinical anophthalmia, persistent hyperplastic primary vitreous, congenital cataract, Marcus Gunn jaw-winking, ptosis, and delayed visual maturation have been reported.

Chondrodysplasia Punctata, Autosomal Recessive Type Rhizomelic Chondrodysplasia Punctata, Type II MIM #215100 Gene map locus: 6q22–q24. Inheritance: autosomal recessive. Over 40 cases reported.

General Description: severe problem in growth and mental deficiency, cortical atrophy, seizures, spasticity, microcephaly, low nasal bridge and flat facies, frontal bossing, microganthia, sensorineural deafness, symmetric proximal shortening of humeri and femora, coronal cleft in vertebrae, punctate epiphyseal mineralization, ichthyosis (30%), alopecia. Patients usually die before 1 to 2 years of age.

Ocular Findings

Common: congenital cataract (72%)

Less common: up-slanting palpebral fissures

Chondrodysplasia Punctata, X-Linked Dominant Type Conradi–Hunermann Syndrome MIM #302960 Gene map locus: Xp11.23–p11.22. Inheritance: X- linked dominant (lethal in hemizygous males). Over 50 cases reported.

General Description: mild to moderate growth deficiency, variable low nasal bridge with flat facies, frontal bossing, hypoplasia of malar eminences, deafness, asymmetrical limb shortness related to areas of punctate mineralization in epiphyses, scoliosis related to early punctate mineralization, erythema and thick adherent scales in the newborn period. In older children, variable follicular atrophoderma with large pores resembling “orange peel” and ichthyosis, sparse, coarse hair, patchy areas of alopecia.

Ocular Findings

Common: cataract, down-slanting palpebral fissures

Less common: nystagmus, hazy cornea, microphthalmus, glaucoma, atrophy of retina and optic nerve

Chondrodysplasia Punctata, X-Linked Recessive Type MIM #302950 Gene map locus: Xp22.3. Inheritance: X-linked recessive. Rare.

General Description: chondrodysplasia punctata, ichthyosis, short stature, hypoplastic distal phalanges, microcephaly, developmental delay, hearing loss, linear or whorled atrophic and pigmentary skin lesions, striated ichthyosiform hyper-keratosis, follicular atrophoderma, cicatricial alopecia. Occasional anosmia and hypogonadism in males (Kallmann syndrome).

Ocular Findings: cataract

(continued)

TABLE 10-2. Ocular and Systemic Findings in Selected Inherited Syndromes (continued).

Cleft Lip Sequence MIM *119530 Gene map locus: 6p24.3. Inheritance: autosomal dominant (isolated cases (75%–80%), familial (10%–15%), and syndromal (1%–5%). Incidence: 1 : 1,000.

General Description: cleft lip frequently associated with cleft palate. Other secondary anomalies include defects of tooth development in the area of the cleft lip and incomplete growth of the ala nasi on the side of the cleft. Tertiary abnormalities can include poor speech, repeated otitis media, and conductive hearing loss.

Ocular Findings: occasional mild hypertelorism

Cleidocranial Dysostosis Cleidocranial Dysplasia MIM #119600 Gene map locus: 6p21. Inheritance: autosomal dominant. Over 500 cases reported.

General Description: partial to complete aplasia of clavicles with associated muscle defects, small thorax, late ossification of cranial sutures, late eruption of teeth, hand anomalies. Occasional deafness.

Ocular Findings: hypertelorism

Clouston’s Syndrome Ectodermal Dysplasia-Hidrotic, Ectodermal Dysplasia 2

MIM #129500 Gene map locus: 13q12. Inheritance: autosomal dominant. Over 200 cases reported.

General Description: nail hypoplasia to aplasia, nail dysplasia, hair hypoplasia to alopecia, thick dyskeratotic palms and soles

Ocular Findings

Common: deficiency of eyelashes and eyebrows, strabismus

Less common: cataract, photophobia

Cockayne’s Syndrome, Type I MIM *216400 Gene map locus: chromosome 5. Inheritance: autosomal recessive. Over 60 cases reported.

General Description: senile-like changes beginning in infancy. Profound postnatal growth deficiency, impaired hearing, photosensitive dermatitis.

Ocular Findings: cataract, salt-and-pepper retinal pigmentation, optic atrophy, strabismus, hyperopia, corneal opacity, decreased lacrimation, nystagmus, moderately sunken eyes, poor pupillary dilation secondary to hypoplasia of the dilator muscle, iris transillumination

Coffin–Lowry Syndrome MIM #303600 Gene map locus: Xp22.2–p22.1. Inheritance: X-linked dominant. Over 40 cases reported.

General Description: mild to moderate growth deficiency, severe mental deficiency, hypotonia, coarse facies, bullous nose, maxillary hypoplasia, large open mouth with thick everted lower lip, prominent ears, hypodontia, vertebral defects, large soft hands with tapering fingers

Ocular Findings: down-slanting palpebral fissures, mild hypertelorism, prominent eyebrows

Coffin–Siris Syndrome Fifth Digit Syndrome MIM 135900 Inheritance: autosomal dominant. Over 30 cases reported.