Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.

Author:

Chen C P,Shih S L,Liu F F,Jan S W

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference42 articles.

1. alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth The association of holoprosencephaly and sirenomelia is extremely rare. In 1986, Young et al" first reported a twin infant, born at 33 gestational weeks, with cebocephaly, atelencephaly, and sirenomelia. Subsequently, only one patient with cyclopia, holoprosencephaly, and sirenomelia has been observed.'8 Here, we report an additional case of holoprosencephaly with sirenomelia. To our knowledge, the combination of cebocephaly, alobar holoprosencephaly, cleft palate, spina bifida, and sirenomelia has not been previously reported;Cebocephaly

2. I owting Figure 1 Photograph of the sireniform stillbirth sl cebocephaly with ocular hypotelorism and a single; The lower limbs are fusedfrom the pelvis to the anAkles and angulated 1800 posteriorly in relation to the trunk

3. Discussion Our case is a rare combination of type I sirenomelia' with sympus dipus, alobar holoprosencephaly, cebocephaly, and spina bifida, without the association of maternal diabetes mellitus, monozygotic twins, abnormal chromosomal complements, or familial inheritance

4. Sirenomelia sequence;Escobar, L.F.; Weaver, D.D.; Winn, J.,1990

5. Morphogenesis of malformation in hamsters caused by retinoic acid: relation to dose and stage at treatment;Shenefelt, R.E.,1972

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