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Humero‐radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs
- Source :
- American Journal of Medical Genetics Part A. :1775-1780
- Publication Year :
- 2008
- Publisher :
- Wiley, 2008.
-
Abstract
- 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.
- Subjects :
- Adult
Male
congenital, hereditary, and neonatal diseases and abnormalities
Microcephaly
Lissencephaly
Genes, Recessive
Genitalia, Male
Corpus callosum
Central nervous system disease
Pregnancy
Genetics
medicine
Humans
Abnormalities, Multiple
Thumb hypoplasia
Genetics (clinical)
business.industry
Siblings
Genetic Diseases, X-Linked
Short corpus callosum
Syndrome
Anatomy
Humerus
Synostosis
medicine.disease
Radius
Phenotype
Simplified gyral pattern
Female
Agenesis of Corpus Callosum
business
Subjects
Details
- ISSN :
- 15524833 and 15524825
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics Part A
- Accession number :
- edsair.doi.dedup.....581ce984baf99f71722bff410a0af105