Genetic Disorders and the Fetus. Группа авторов

Genetic Disorders and the Fetus

sweating ⁶³¹ ^, ⁶³² Ichthyosis Ichthyosis ⁶³³ KDM5C gene disease Intellectual disability ⁶³⁴ Lissencephaly and agenesis of the corpus callosum Epilepsy with subcortical band heterotopia ⁵⁹⁹ Lowe syndrome Lenticular cataracts ⁶³⁵ MASA syndrome/SPG1 Mild intellectual disability, abducted thumbs ⁵⁹⁹ McLeod neuroacanthocytosis syndrome Chorea, late‐onset cognitive decline ⁶³⁶ Menkes disease Patchy kinky hair, hypopigmentation ⁶³⁷ ^, ⁶³⁸ Myopia Mild myopia ⁶³⁹ Nance–Horan syndrome ^b Posterior Y‐sutural cataracts and dental anomalies ⁶⁴⁰ Norrie disease Retinal malformations ⁶⁴¹ Ocular albinism type 1 Retinal/fundal pigmentary changes ⁶⁴² Oculofaciodigital syndrome (OFD1) allelic with Simson–Galabia–Beheld syndrome 2 and Joubert syndrome Facial dysmorphism, abnormal digits, and polycystic kidneys ⁵⁹⁹ Oligodontia Hypodontia ⁶⁴³ Opitz G/BBB syndrome Hypertelorism ⁶⁴⁴ Opitz–Kaveggia syndrome Mild intellectual disability, hypertelorism ⁵⁹⁹ Ornithine transcarbamylase deficiency Hyperammonemia, psychiatric/neurologic manifestations ⁶⁴⁵ ^, ⁶⁴⁶ Ovarian cancer Ovarian cancer ⁶⁴⁷ Pelizaeus–Merzbacher Possible mild spasticity ⁶⁴⁸ Retinoschisis Peripheral retinal changes ⁶⁴⁹ Retinitis pigmentosa Night blindness, concentric reduction of visual field, pigmentary fundal degeneration, extinction of electroretinogram, cone disruption, vision loss ⁶⁵⁰ ^, ⁶⁵¹ MECP2‐duplication syndrome Intellectual disability, neuropsychiatric features, endocrine abnormalities ⁶⁵² Simpson–Golabi–Behmel syndrome Extra lumbar/thoracic vertebrae, accessory nipples, facial dysmorphism ⁶⁵³ ^, ⁶⁵⁴ Spinal and bulbar muscular atrophy Muscle weakness and cramps ⁶⁵⁵ Split‐hand/split‐foot anomaly Mild split‐hand/split‐foot anomaly ⁶⁵⁶ Spondyloepiphyseal dysplasia, late onset Arthritis ⁶⁵⁷ Ulnar hypoplasia with lobster‐claw deficiency of feet Slight hypoplasia of ulnar side of hand and mild syndactyly of toes ⁶⁵⁸ Wiskott–Aldrich syndrome ^a Abnormal platelets and lymphocytes ⁶⁵⁹ ^, ⁶⁶⁰ X‐linked intellectual disability Mostly intellectual disability (many genes), occasional short stature, hypertension, psychiatric symptoms ⁶⁶¹ ^– ⁶⁶³ X‐linked mental retardation Short stature, hypertelorism ⁵⁹⁹ ^, ⁶⁶⁴ ^, ⁶⁶⁵ X‐linked mental retardation (OPHN1) Cerebellar hypoplasia, distinctive facies ⁶⁶⁶ ^, ⁶⁶⁷ X‐linked myotubular myopathy Weakness, respiratory problems ⁶⁶⁸ X‐linked protoporphyria Life‐long photosensitivity; liver disease ⁶⁶⁹ X‐linked retinitis pigmentosa Retinal changes ⁶⁷⁰

^a Uncertain.

^b May be same disorder.

History of a previous child with intellectual disability with a diagnosis deemed “idiopathic” or of unknown cause after chromosomal, fragile

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