Autosomal dominant cerebro‐costo‐mandibular syndrome: Ultrasonographic and clinical findings

Abstract

We describe two patients, a father and his daughter, with the cerebro-costo-mandibular syndrome. New manifestations not previously described include microstomia, long philtrum, posterior cervical skin fold, short internipple distance, and depressed sacral region. The presence of hydrocephaly in the proposita and spina bifida in the father may be other manifestations of neuraxial involvement in this syndrome. The first intrauterine ultrasonographic documentation of this syndrome showed polyhydramnios and, especially, the very unusual shape of the ribs, which were short and defective. Most characteristics of the pedigree point to autosomal dominant inheritance. The great variability of inheritance and expressivity of the very few documented familial cases described in the literature, together with the great frequency of sporadic cases, indicates genetic heterogeneity of this syndrome.

Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome?

“…Both an autosomal recessive [7][8][9][10] and autosomal dominant 6,11,12 pattern of inheritance has been described. No case has been described with a chromosome anomaly.…”

Cerebro-costo-mandibular syndrome with stippled epiphysis and cystic fibrosis

“…Clarke and Nguyen described an infant, the product of a father/daughter union, who had microcephaly, a large porencephalic cyst and no definable ventricular system or interhemispheric fissure [2]. Merlob et al reported a patient with CCM whose in-utero ultrasound showed "a fluid-filled supratentorial" compartment [3]. Our patient is the third example of cerebral structural anomaly in CCM in the literature.…”

New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects

“…Microcephaly of postnatal onset may be present (40%), sometimes associated with structural cerebral anomalies [Plotz et al, 1996]. So far these have been detected in only three living patients by ultrasound and CT scan, and they include large porencephalic cyst and no definable ventricular system or interhemispheric fissure in one case; agenesis of the corpus callosum with ''enhancement'' of the right leaf of the tentorium and enlargement of both lateral ventricles in another, and ''fluid filled supratentorial'' compartment in yet another [Clarke and Nguyen, 1985;Merlob et al, 1987;Burton and Oestreich 1988]. Exceptionally, intrauterine growth retardation and rib anomalies could be seen by ultrasound examination during pregnancy, but usually prenatal diagnosis is very difficult and probably restricted to families with a positive history for CCMS [Merlob et al, 1987].…”