| Remarks |
Optic nerve hypoplasia; unilateral microtia (left); postaxial polydactyly of the hands; short stature; distinctive facial appearance with minor dysmorphic features; upslanting palpebral fissures; Wilms tumor of right kidney removed surgically at age 30 months; seizures; clitoromegaly; rugae on the labia majora; pubertal delay; recurrent pancreatitis; adrenal insufficiency; severe developmental delay: nonverbal and non-ambulatory; these parents terminated a subsequent pregnancy of a male fetus which showed multiple abnormalities by ultrasound at 27 weeks gestation: left cleft palate, hypertelorism and rhizomelic limb shortening; decreased hearing; tooth enamel dysplasia; abnormal breathing pattern while asleep; pooling of bile in the upper GI tract; strabismus; blepharophimosis; sparse eyebrows and no lower eye lashes; cranial imaging suggests absent olfactory nerves and bulbs, diffuse atrophy of the cerebral cortex and mild to moderate dilatation of the lateral and 3rd ventricles; adenoidectomy; numerous respiratory infections; maternal aunt had a history of infertility and miscarriages; negative for WT1 and GLI3 gene mutations; also negative for MELAS, MERRF and NARP mitochondrial mutations |