Upper limb amelia, facial clefts, holoprosencephaly, and interrupted aortic arch.
The combination of bilateral brachial amelia, facial clefting, and holoprosencephaly is rare. To our knowledge, only 4 patients with this combination of malformations have been described so far. We report on a male fetus with bilateral brachial amelia, complex facial clefts, frontal craniosynostosis and hypoplasia, thoracic kyphoscoliosis, and holoprosencephaly. In addition, an interrupted aortic arch, a muscular ventricular septal defect, and localized noncompaction of the septal myocardium were present. Although fibroblast culture was not successful, fluorescent in situ hybridization of paraffin-embedded tissue showed a normal set of chromosomes 13, 18, 21, X and Y. Our observation supports the hypothesis that this malformation combination may constitute a distinct entity. However, so far, a genetic defect remains to be identified.
Zimpfer
Annette
A
Institute of Pathology, Basel University Hospital, Switzerland.
Miny
Peter
P
Dombrowski
Ulrike
U
Tolnay
Markus
M
Meyer
Peter
P
Bruder
Elisabeth
E
D000015:Abnormalities, Multiple / Q000473:pathology*; D000028:Abortion, Induced; D001013:Aorta, Thoracic / Q000002:abnormalities*; D001132:Arm / Q000002:abnormalities*; D004480:Ectromelia / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D009056:Mouth Abnormalities / Q000473:pathology*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal