We describe a sib pair with craniofacial anomalies, micrognathia, Mo Β¨bius sequence, generalised myopathy, relative macrocephaly, and developmental delay. They appear to have the Carey-Fineman-Ziter syndrome (MIM 254940), which has been reported in only four children, a sib pair and two sporadic cas
Pacman dysplasia: Report of two affected sibs
β Scribed by Wilcox, William R.; Lucas, Barbie C.; Loebel, Barbara; Bachman, Ronald P.; Lachman, Ralph S.; Rimoin, David L.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 33 KB
- Volume
- 77
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980526)77:4<272::aid-ajmg4>3.0.co;2-p
No coin nor oath required. For personal study only.
β¦ Synopsis
We report on two sib fetuses with radiological and morphological findings similar to
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