![]() At autopsy, the first fetus showed severe micrognathia, a U-shaped defect of the soft palate, marked postnuchal edema, absent olfactory bulbs, and cribriform plate and rib abnormalities. The pregnancies were terminated at 19 and 12 weeks' gestation, respectively. (1999) described a family in which 2 sibs had apparently absent ribs and severe micrognathia on prenatal ultrasonography. Myogenic factor-5 (MYF5 159990), goosecoid (GSC 138890), and CBFA1 (RUNX2 600211) were discussed as candidate genes, on the basis of their role in bone formation and the phenotype of knockout mice. They suggested that this represents an unusually severe expression of the CCM syndrome. Hennekam and Goldschmeding (1998) described a newborn with complete absence of ossification of the ribs, extreme micrognathia, absence of external ear canals and the inner ears, and diminished mobility in the upper limbs. The diagnosis can be confirmed in utero by ultrasound examination of the fetal mandible and head. The most prominent ultrasonographic sign was the unusual shape of the ribs, which were very short and defective. Prenatal diagnosis was made by ultrasonography in the case of the daughter. (1987) described affected father and daughter. Defects of the heart and kidneys were uncommon. Microcephaly was found in 11 of 28 cases. Approximately two-thirds of patients had cleft palate and glossoptosis. A detailed review of 48 previously reported cases showed that respiratory distress, gaps of posterior ribs, and micrognathia were virtually constant manifestations. (1996) described 2 more sporadic cases of this syndrome in males, one of whom died at 12 hours, and the other at 10 months. Cerebral involvement was evident in 2 who had had perinatal asphyxia. All 4 had Pierre-Robin anomalad and rib dysplasia. (1991) described a sibship with 2 sets of dizygotic twins with CCMS. This observation lends support to autosomal recessive inheritance.ĭrossou-Agakidou et al. (1985) reported CCMS in the sib of a patient reported by Silverman et al. ![]() (1985) reported 2 affected brothers who also had spina bifida. Schroer and Meyer (1985) reported an isolated case in a 15-year-old girl. The authors suggested that mental defect may not be inherent to CCMS but rather a frequent consequence of neonatal respiratory distress. The 3 patients were intellectually normal, but indistinct speech was commented on. ![]() (1981) provided the first evidence of dominant inheritance a mother and her son and daughter (by different fathers) were affected. Deficiency in the posterior portion of affected ribs by roentgenography is a sine qua non for diagnosis. Intrauterine and postnatal growth retardation are common. They pointed out that familial cases are seemingly unusual and stated that 'the possibility exists that some teratogenic agent has played a role in the clustering of cases since 1963.' Cleft palate and glossoptosis often contribute to the presenting sign, neonatal respiratory distress. ![]() (1980) gave an extensive review of 22 cases. The 'gaps' occur in the posterior portion of the ribs and may lead to 'flail chest.' The condition has also been designated 'rib gap defects with micrognathia' ( Miller et al., 1972). (1970), the normal father and mother were 40 and 33, respectively, at the birth of the first affected child. In the family reported by McNicholl et al. A barking cough in one suggested tracheal cartilage abnormality as in the case of Smith et al. (1970) described a syndrome of mental retardation, palatal defects (short hard palate with central hole, absent soft palate, absent uvula), micrognathia, glossoptosis, and severe costovertebral abnormalities. In a female and 2 male sibs, McNicholl et al. ![]()
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