Progressive disorder characterized by a flat nasal bridge, microcephaly, severe mental retardation, short stature, and metaphyseal-epiphyseal abnormalities.
Hall Riggs Mental Retardation Syndrome.
Incidence and genetic inheritance
Very rare (described in two families with consanguinity); autosomal recessive.
Patients present with growth, motor, speech, and mental retardation. Features involve head (microcephaly, prominent forehead, depressed nasal bridge, anteverted nostrils, epicanthal folds, large lip, malformed teeth) and skeleton (prominent sternum, brachydactyly and clinodactyly, clubbed fingers, short arms, joint hypermotility, scoliosis, bullet-shaped vertebrae, delayed bone age, epiphyseal and metaphyseal defects). Recurrent pneumonia and unexplained vomiting may occur.
Careful preoperative evaluation must include neurologic function (clinical computed tomography [CT], electroencephalogram [EEG]), tracheal intubation (clinical, radiographs) because of microcephaly, and respiratory because of recurrent infections (chest radiographs, pulmonary function tests if necessary). Direct laryngoscopy and tracheal intubation can be difficult. Prophylactic antibiotics may be considered to prevent pulmonary infections. Careful intraoperative positioning is needed. Postoperative mechanical ventilation must always be considered in presence of decreased respiratory functions.
FD: A new familial metabolic disorder with progressive osseous changes, microcephaly, coarse facies, flat nasal bridge and severe mental retardation. Birth Defects Orig Artic Ser 9:79, 1975.
R: Hall-Riggs syndrome: A possible second affected family? J Med Genet