We report on a family in which two sibs had apparently absent ribs and severe micrognathia on prenatal ultrasonography. The pregnancies were terminated at 19 and 12 weeks of gestation, respectively. Autopsy findings in the first fetus (19 weeks of gestation) included severe micrognathia, a Ushaped d
Chondrodysplastic dwarfism, cleft palate and micrognathia in a neonate, a new syndrome?
β Scribed by Nuhad D. Dinno; Lorretta Shearer; Bernhard Weisskopf
- Book ID
- 104787215
- Publisher
- Springer
- Year
- 1976
- Tongue
- English
- Weight
- 1008 KB
- Volume
- 123
- Category
- Article
- ISSN
- 0340-6997
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β¦ Synopsis
We describe a female infant with lethal, short-limb dwarfism, micrognathia, hydrocephalus with occipital encephalocele and a generalized spondyloepimetaphyseal dysplasia who probably has the same condition that was described by l~olland et al. (i972) and by Langer et al. (1976). This may be a recessively inherited syndrome.
π SIMILAR VOLUMES
This paper reports a rare malformation syndrome which is observed in two sibs (brother and sister) of a family. It consists of nearly symmetric reductive defects of the limbs, flexon contractures of various joints, cleft lip and cleft palate, multiple minor abnormalities including capillary hemangio