Arthrogryposis, Distal, With Hypopituitarism, Mental Retardation, And Facial Anomalies

Clinical Features

Chitayat et al. (1990) described a brother and sister with distal arthrogryposis (camptodactyly of fingers and hammertoes), hypopituitarism, severe mental retardation, and facial anomalies ('boxy' head, square face, small tipped nose, chubby cheeks, and micrognathia). The brother died unexpectedly at age 3 months of undetermined cause. The sister showed abnormality in the secretion of growth hormone and responded to growth hormone therapy.

Rao et al. (2013) reported a 3-year-old girl, born to first-cousin Somali parents, who had distal arthrogryposis, developmental delay, and evidence of anterior pituitary dysfunction. Other than 4 previous miscarriages in the current relationship, the family history was unremarkable. Fetal movements were reduced, and generalized hypotonia was noted after birth. She was microcephalic and had metopic suture synostosis. She had an oval face with frontal bossing, full cheeks, small nose with depressed nasal bridge, left microphthalmia, and retinal coloboma. She also had congenital stridor with a grade I laryngeal cleft, vocal cord palsy on the left, and partial vocal cord palsy on the right. Other distinctive features included progressive aminoaciduria, hypokalemia, and an abnormal skeletal survey that showed incomplete thoracic vertebrae. Brain MRI showed slightly delayed myelination, immature hemispheric white matter development, and some reduction in cortical folding. Rao et al. (2013) stated that their patient had features consistent with those in the sibs reported by Chitayat et al. (1990) and that their report extends the clinical phenotype of the disorder, which they called Chitayat-Hall syndrome.

Inheritance

Rao et al. (2013) stated that consanguinity in their family and affected sibs in the family reported by Chitayat et al. (1990) support autosomal recessive inheritance of the disorder.