A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa

A girl with severe pre‐ and post‐natal short stature, low‐pitched voice, retinitis pigmentosa, photophobia, short neck, broad thorax, platyspondyly, rhizomelic shortening of the long bones, bilateral subluxation of the hips, advanced maturation of the epiphyses, and apparently normal intellectual de...

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Bibliographic Details
Published in:American journal of medical genetics 2004-10, Vol.130A (2), p.176-180
Main Authors: Mégarbané, André, Melick, Nancy, Daou, Linda
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Biological and medical sciences
Child, Preschool
Consanguinity
Female
General aspects. Genetic counseling
Humans
Limb Deformities, Congenital - diagnostic imaging
Limb Deformities, Congenital - pathology
Male
Medical genetics
Medical sciences
Musculoskeletal Abnormalities
Ophthalmology
photophobia
platyspondyly
Radiography
Retinitis Pigmentosa - pathology
Retinopathies
skeletal dysplasia
Syndrome
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Summary:A girl with severe pre‐ and post‐natal short stature, low‐pitched voice, retinitis pigmentosa, photophobia, short neck, broad thorax, platyspondyly, rhizomelic shortening of the long bones, bilateral subluxation of the hips, advanced maturation of the epiphyses, and apparently normal intellectual development is described. The girl's parents are first cousins. Two subsequent pregnancies had ended in spontaneous abortion with polyhydramnios and severe growth retardation. To the best of our knowledge, this association had not been previously reported, and may be considered a newly recognized syndrome. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.30138