Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs.
We report on two male sib fetuses with humero-radial synostosis and thumb hypoplasia, microcephaly with simplified gyral pattern, short corpus callosum and ambiguous genitalia. The main clinical, anatomopathological and imaging findings are presented and compared with previous cases of humero-radial synostosis as a prominent manifestation and with the X-linked lissencephaly with ambiguous genitalia syndrome (X-LAG). To our knowledge, this combination of anomalies has never been described before, and we propose that this disorder comprises a new humero-radial synostosis syndrome with an autosomal recessive or X-linked pattern of inheritance.
Guilherme
Romain
R
Department of Developmental Biology, Robert Debré Hospital, AP-HP, Paris Diderot University, Paris, France. romain.guilherme@psl.aphp.fr
Baumann
Clarisse
C
Garel
Catherine
C
Huten
Yolène
Y
Oury
Jean-François
JF
Delezoide
Anne-Lise
AL
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D061085:Agenesis of Corpus Callosum; D005260:Female; D005808:Genes, Recessive; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D006811:Humerus / Q000002:abnormalities; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011247:Pregnancy; D011884:Radius / Q000002:abnormalities; D035781:Siblings; D013577:Syndrome; D013580:Synostosis / Q000235:genetics* / Q000473:pathology