Pallister W Syndrome

Pallister et al. (1974) described 2 brothers with a mental retardation syndrome characterized by an unusual physiognomy (frontal prominence), anterior cowlick, hypertelorism, antimongoloid orbital slant, and broad, flat nasal bridge like that of the OPD syndrome (311300), midline notch of upper lip and submucous cleft of the hard palate, absent upper central incisors, limited motion at the elbow due to subluxation, camptodactyly, and pes cavus. In addition to the mental retardation, the patients had grand mal seizures. The mother and a sister were considered mildly affected, consistent with heterozygous manifestation of an X-linked trait. Bottani and Schinzel (1993) described a patient thought to have this disorder. Severe mental retardation with seizures was associated with a pattern of facial dysmorphism, including high broad forehead, downslanting palpebral fissures, hypertelorism, peculiar nose, and peculiar upper lip with a median notch (incomplete midline oral cleft). The face was compared to that of a boxer, i.e., pugilistic face.

Goizet et al. (1999) reported 3 patients with the Pallister W syndrome and reviewed the 4 patients in 2 separate families that had previously been described. Constant features seemed to be characteristic facies with prominent mandible and pugilistic appearance, and central nervous system involvement with strabismus, spasticity, and moderate to severe mental retardation.