Progressive disorder characterized by a flat nasal
bridge, microcephaly, severe mental retardation, short stature, and
Hall Riggs Mental Retardation Syndrome.
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), 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.
Hall BD, Riggs 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.
Silengo M, Rigardetto R: Hall-Riggs syndrome: A possible second affected
family? J Med Genet