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Growth hormone (GH) deficiency was diagnosed at 1.5 years, and GH supplementation was attempted without notable results. His bone age is also delayed. He was diagnosed with mild high-frequency hearing loss and uses hearing aids. He has several musculoskeletal problems, including progressive neuromuscular scoliosis requiring rod placement for correction, bilateral hip dysplasia, bilateral metatarsus adductus, and residual flexion of his proximal interphalangeal joints. He pulled up at 23 months and walked at 3.5 years. He communicates mostly with signs but also speaks and spells some words and is able to read at a first-grade level. At 10 years of age, his height is 108.8?cm (selleck products fissures, epicanthal folds, mild hypertelorism, prominent and straight nasal bridge, long philtrum, Doxorubicin purchase peaked upper lip, slightly widely spaced teeth, small chin, two pigmented nevi on the left cheek, sternal asymmetry with right ribs more prominent than the left, digits that are broadened distally, markedly long fingers and toes, and small great toenails. Ophthalmologic findings include strabismus, which was surgically repaired; corneal clouding due to keratitis; myopia and astigmatism, for which he has worn glasses since 4 months of age; and blepharitis. He has diffuse hypotonia, though in infancy he had asymmetric, mixed hypo- and hypertonia. Patient 2 is a 12-year-old female with seizures, growth retardation, ID, and dysmorphic features. She was born at term weighing 2.4?kg (FARP1 She had neonatal respiratory distress and arrest. She had difficulties gaining weight. She had surgery for tonsillar hypertrophy and ankyloglossia. At 4 years of age she had a febrile seizure, and she had another seizure episode at 8 years; she is on valproic acid to control the seizures. She is unable to read or write. At 12 years of age, her height is 136?cm (