Craniosynostosis with anomalies of the cranial base and digits
Craniosynostosis with anomalies of the cranial base and digits is a syndrome characterized by atypical development in a fetus's limbs and skull. People with this condition are often missing the middle parts of the second and fifth fingers, as well as their thumbs, though the thumbs may be improperly positioned. The big toes may also be missing or improperly positioned. Additionally, the bones in the skull close too early in development (craniosynostosis), and bones at the skull base grow incorrectly.[1]
Woon et al. first reported the condition in 1980 in a pair of male twins of Mexican American and Sioux Indian ancestry with no chromosomal abnormalities. Both died within 3 months of birth.[2][3]
References
[edit]- ^ "Craniosynostosis with anomalies of the cranial base and digits". National Library of Medicine. Retrieved 2023-09-14.
- ^ Woon, Kok-Chin; Kokich, Vincent G.; Clarren, Sterling K.; Cohen, M. Michael (August 1980). "Craniosynostosis with associated cranial base anomalies: A morphologic and histologic study of affected like-sexed twins". Teratology. 22 (1): 23–35. doi:10.1002/tera.1420220105. ISSN 0040-3709. PMID 7444800.
- ^ "Craniosynostosis with anomalies of the cranial base and digits". Online Mendelian Inheritance in Man. Retrieved 2023-09-14.
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