| Phenotype details |
Severe muscular hypotonia, contractures of the knees, elbows, and fingers, and lack of spontaneous movements. Dysmorphic with a high anterior hairline, bitemporal narrowing, a prominent metopic ridge with a midline naevus simplex, widely spaced eyes, a depressed nasal bridge, a short nose with anteverted nares, a prominent, fleshy philtrum, a wide mouth with thick vermilion of the lips, gingival overgrowth, a narrow V‐shaped palate without clefting, micrognathia with a vertical median chin crease, overfolded ear helices, a short webbed neck, widely spaced nipples, short distal phalanges of hands and feet with small nails, and a single transverse palmar crease of the right hand. Bilateral inguinal hernias, a small penis, and an atrial septal defect, type II with a left‐right shunt. Elevated ALP level. |
