The camptomelic syndrome in two female siblings

A patient is reported whose only two pregnancies resulted in phenotypically and genotypically female infants with camptomelic syndrome of the long-limbed variety. Both infants died within a few minutes of birth.

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Bibliographic Details
Published inClinical genetics Vol. 18; no. 2; p. 137
Main Authors Mellows, H J, Pryse-Davies, J, Bennett, M J, Carter, C O
Format Journal Article
LanguageEnglish
Published Denmark 01.08.1980
Subjects
Abnormalities, Multiple - diagnostic imaging
Abnormalities, Multiple - genetics
Cervical Vertebrae - abnormalities
Dwarfism - diagnostic imaging
Dwarfism - genetics
Female
Femur - abnormalities
Humans
Infant, Newborn
Pregnancy
Radiography
Syndrome
Tibia - abnormalities
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Summary:A patient is reported whose only two pregnancies resulted in phenotypically and genotypically female infants with camptomelic syndrome of the long-limbed variety. Both infants died within a few minutes of birth.
ISSN:0009-9163
DOI:10.1111/j.1399-0004.1980.tb01024.x