Genetic Disorders and the Fetus. Группа авторов

Скачать книгу

⁵⁹⁹ Dilated cardiomyopathy Cardiac failure ⁶¹⁴ Duchenne/Becker muscular dystrophy Pseudohypertrophy, muscle weakness, cardiomyopathy/conduction defects ^{615 – 618} Dyskeratosis congenita Retinal pigmentation ⁶¹⁹ Ectodermal dysplasia Variable severity of skin, hair, nails, and teeth ⁵⁹⁹ Emery–Dreifuss muscular dystrophy Cardiomyopathy/conduction defects ^{620 – 622} Fabry disease Angiokeratomas, corneal dystrophy, "burning" hands and feet, rhabdomyolysis ^{623 , 624} FG syndrome Anterior displaced anus, facial dysmorphism ⁶²⁵ Fragile X syndrome Mild‐to‐moderate intellectual disability, behavioral aberrations, schizoaffective disorder, premature ovarian failure, fragile X tremor ataxia syndrome, women and men premutation carriers ^626–628 (see Chapter 16) G6PD deficiency Hemolytic crises, neonatal hyperbilirubinemia ⁶²⁹ Hemophilia A and B Bleeding tendency ⁶³⁰ Hypohydrotic ectodermal dysplasia Sparse hair, decreased 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

Скачать книгу