Craniosynostosis associated with limb reduction malformations and cleft lip/palate: A distinct syndrome

R. L. Ladda, E. Stoltzfus, S. L. Gordon, W. P. Graham

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Craniosynostosis associated with short stature, radial and fibular aplasia, and cleft lip and/or palate represents a distinct syndrome. One original case and one previously undiagnosed case from the literature were found to have many distinct features in common, permitting them to be separated from craniosynostosis with radial or fibular aplasia, Robert's syndrome, pseudothalidomide or SC syndrome, and the hypomelia-hypotrichosis-facial hemangioma syndrome. Each had multiple craniofacial abnormalities: dysplastic ears, hypertelorism, strabismus, and malocclusion. Ulnae and humeri were hypoplastic; tibiae were bowed and hypoplastic. Testes were small. Associated mild to moderate mental retardation may be related to early institutionalization.

Original languageEnglish (US)
Pages (from-to)12-15
Number of pages4
JournalPediatrics
Volume61
Issue number1
StatePublished - Jan 1 1978

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Craniosynostoses
Cleft Lip
Cleft Palate
Extremities
Craniofacial Abnormalities
Hypertelorism
Multiple Abnormalities
Institutionalization
Ulna
Malocclusion
Strabismus
Humerus
Tibia
Intellectual Disability
Ear
Testis
Roberts Syndrome

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Ladda, R. L., Stoltzfus, E., Gordon, S. L., & Graham, W. P. (1978). Craniosynostosis associated with limb reduction malformations and cleft lip/palate: A distinct syndrome. Pediatrics, 61(1), 12-15.
Ladda, R. L. ; Stoltzfus, E. ; Gordon, S. L. ; Graham, W. P. / Craniosynostosis associated with limb reduction malformations and cleft lip/palate : A distinct syndrome. In: Pediatrics. 1978 ; Vol. 61, No. 1. pp. 12-15.
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Ladda, RL, Stoltzfus, E, Gordon, SL & Graham, WP 1978, 'Craniosynostosis associated with limb reduction malformations and cleft lip/palate: A distinct syndrome', Pediatrics, vol. 61, no. 1, pp. 12-15.

Craniosynostosis associated with limb reduction malformations and cleft lip/palate : A distinct syndrome. / Ladda, R. L.; Stoltzfus, E.; Gordon, S. L.; Graham, W. P.

In: Pediatrics, Vol. 61, No. 1, 01.01.1978, p. 12-15.

Research output: Contribution to journalArticle

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