Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies

Chitayat et al. (1991) described a combination of mental retardation with distal arthrogryposis in 2 sisters, one of whom died of respiratory failure due to hypoplastic lungs shortly after birth. The chin showed a grooving like that seen in the Freeman-Sheldon syndrome (193700) but the patients did not have other features of that syndrome. Clenched hands and narrow chest were present as well as increased subcutaneous fat and decreased muscle mass. Chitayat et al. (1991) concluded that the disorder is different from that reported by Chitayat et al. (1990); see 208080. With the exception of these 2 reports, previously reported families manifesting distal arthrogryposis of type II (the type with both limb involvement and manifestations elsewhere) have been autosomal dominant in their inheritance.

Wortmann et al. (2007) reported a 16-month-old Turkish boy, born of consanguineous parents, who had severe encephalopathy, distal contractures, and growth retardation without hypopituitarism. He developed myoclonic and tonic-clonic seizures in the second week of life. His head had a 'cubical' shape with trigonocephaly, high narrow forehead, prominent metopic sutures, curved eyebrows, double lashes, rounded cheeks, small mouth, high-arched palate, retrognathia, small nose with pointed tip, and low-set ears. Generalized hirsutism, low nuchal hairline, a short narrow thorax, adducted thumbs, tapering fingers, camptodactyly/clinodactyly, and hammer toes were also noted. Muscle mass was decreased with a relative increase of subcutaneous fat, and he displayed axial hypotonia, poor spontaneous movements, and tetraspasticity. Cranial MRI revealed mild frontal atrophy and mild ventriculomegaly, bilateral symmetric periventricular lesions, and delayed myelinization. Muscle biopsy was normal, as was mitochondrial DNA analysis for common point mutations and deletions. Molecular genetic analysis ruled out a clinically similar disorder caused by reciprocal 6q/9p translocation, Haspeslagh syndrome (177980). Wortmann et al. (2007) stated that this patient was most similar to the patient described by Chitayat et al. (1991), although he had some features in common with the patient reported by Chitayat et al. (1990).