Oral-facial-digital syndrome with vaginal atresia, hydronephrosis and congenital cardiac defect

Wei-Ren Su, Ping Hui Wang, Jenn Dong Lian, Chii-Jeng Lin

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Orofaciodigital syndromes (OFDS) are a group of diseases classified according to the phenotype and the mode of inheritance. We report on a female patient with ocular hypertelorism, broad nasal root, midline cleft of the upper lip, lobulated tongue, polydactyly of both hands, polysyndactyly of the right big toe and fifth toe, and polydactyly of the left foot. These clinical manifestations resembled OFDS type I. Other associated features included congenital heart defect, bilateral hydronephrosis, and vaginal atresia. To our knowledge, this is the first reported case of OFDS with vaginal atresia.

Original languageEnglish
Pages (from-to)179-182
Number of pages4
JournalJournal of Pediatric Orthopaedics Part B
Volume17
Issue number4
DOIs
Publication statusPublished - 2008 Jul 1

Fingerprint

Orofaciodigital Syndromes
Hydronephrosis
Polydactyly
Hallux
Hypertelorism
Syndactyly
Congenital Heart Defects
Cleft Lip
Toes
Nose
Tongue
Foot
Hand
Phenotype

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Orthopedics and Sports Medicine

Cite this

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abstract = "Orofaciodigital syndromes (OFDS) are a group of diseases classified according to the phenotype and the mode of inheritance. We report on a female patient with ocular hypertelorism, broad nasal root, midline cleft of the upper lip, lobulated tongue, polydactyly of both hands, polysyndactyly of the right big toe and fifth toe, and polydactyly of the left foot. These clinical manifestations resembled OFDS type I. Other associated features included congenital heart defect, bilateral hydronephrosis, and vaginal atresia. To our knowledge, this is the first reported case of OFDS with vaginal atresia.",
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Oral-facial-digital syndrome with vaginal atresia, hydronephrosis and congenital cardiac defect. / Su, Wei-Ren; Wang, Ping Hui; Lian, Jenn Dong; Lin, Chii-Jeng.

In: Journal of Pediatric Orthopaedics Part B, Vol. 17, No. 4, 01.07.2008, p. 179-182.

Research output: Contribution to journalArticle

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