PMID: 39840Jul 1, 1978

Müllerian aplasia with hypoplastic thumbs: Two case reports

International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics
V V Michels, C T Caskey


Two cases of Müllerian aplasia associated with unilateral hypoplasia of the thumbs and skeletal spine deformities in two unrelated females are reported, and the pertinent literature is reviewed. Müllerian aplasia is frequently associated with skeletal spine deformities, but has not been reported to be associated with hypoplasia of the thumbs. Several heritable syndromes, including the hand-foot-uterus syndrome, are characterized by uterovaginal and distal extremity malformations but are not associated with skeletal spine anomalies. The two cases reported here represent a previously unreported constellation of anomalies.


May 1, 1986·American Journal of Medical Genetics·F Halal
Sep 6, 2007·Clinical Dysmorphology·R J McKinlay GardnerLyndon G Hale


Jan 15, 1974·American Journal of Obstetrics and Gynecology·P A Baird, R B Lowry
Feb 15, 1968·American Journal of Obstetrics and Gynecology·B LeducR Simard
Apr 1, 1970·Radiology·A K PoznanskiJ C Gall
Jan 1, 1967·Acta Obstetricia Et Gynecologica Scandinavica·A Turunen, C E Unnérus

Related Concepts

Aplastic Anemia
Hypoplasia of Thumb
Skeletal System
Limb Structure
Multiple Congenital Anomalies
Congenital Absence of Kidneys Syndrome
Congenital Hand Deformities
Bone Structure of Spine

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