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Oral-Facial-Digital Syndrome

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Oral-Facial-Digital Syndrome. / Hagel, Christian; PANTELIADIS, CP.

Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach . ed. / Christos Panteliadis; Ramsis Benjamin; Christian Hagel. 3. ed. Zürich : Springer International Publishing, 2022. p. 235-238.

Research output: SCORING: Contribution to book/anthology › Chapter › Research

Harvard

Hagel, C & PANTELIADIS, CP 2022, Oral-Facial-Digital Syndrome. in C Panteliadis, R Benjamin & C Hagel (eds), Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach . 3 edn, Springer International Publishing, Zürich, pp. 235-238.

APA

Hagel, C., & PANTELIADIS, CP. (2022). Oral-Facial-Digital Syndrome. In C. Panteliadis, R. Benjamin, & C. Hagel (Eds.), Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach (3 ed., pp. 235-238). Springer International Publishing.

Vancouver

Hagel C, PANTELIADIS CP. Oral-Facial-Digital Syndrome. In Panteliadis C, Benjamin R, Hagel C, editors, Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach . 3 ed. Zürich: Springer International Publishing. 2022. p. 235-238

Bibtex

@inbook{1e72b340fb034e39afeb7548b6bce829,
title = "Oral-Facial-Digital Syndrome",
abstract = "Orofaciodigital syndromes (OFDS) are rare hereditary conditions caused by disorders of primary cilia. Clinical manifestations comprise facial (hypertelorism, low-set ears), oral cavity (lingual hamartoma, abnormal frenulum, lobulated tongue), and digital abnormalities (polydactyly, brachydactyly) associated with a wide spectrum of additional features. In 1954, Papillon-Leage and Psaume described a syndrome that involved malformation of the face, oral cavity, and digits. Morton and Jordan (1935), Mohr (1941), and Gorlin and Psaume (1962) reported cases of children with similar malformations. According to the aforementioned authors, the first observation of this syndrome dates back to 1883. Today, OFDS is classified as a distinct subgroup of ciliopathies, which involves at least 16 causal genes. The different subtypes show a wide variety and overlap of clinical symptoms. The incidence is 1 in 50,000 live births, and it is observed in approximately 1.5:1000 patients with cleft lip, cleft palate, or both. In this chapter, the pathogenesis, clinical manifestations, classification, and management of OFDS are reviewed.",
author = "Christian Hagel and CP PANTELIADIS",
year = "2022",
month = feb,
day = "4",
language = "English",
isbn = "978-3-030-87892-4",
pages = "235--238",
editor = "Christos Panteliadis and Ramsis Benjamin and Christian Hagel",
booktitle = "Neurocutaneous Disorders",
publisher = "Springer International Publishing",
address = "Switzerland",
edition = "3",

}

RIS

TY - CHAP

T1 - Oral-Facial-Digital Syndrome

AU - Hagel, Christian

AU - PANTELIADIS, CP

PY - 2022/2/4

Y1 - 2022/2/4

N2 - Orofaciodigital syndromes (OFDS) are rare hereditary conditions caused by disorders of primary cilia. Clinical manifestations comprise facial (hypertelorism, low-set ears), oral cavity (lingual hamartoma, abnormal frenulum, lobulated tongue), and digital abnormalities (polydactyly, brachydactyly) associated with a wide spectrum of additional features. In 1954, Papillon-Leage and Psaume described a syndrome that involved malformation of the face, oral cavity, and digits. Morton and Jordan (1935), Mohr (1941), and Gorlin and Psaume (1962) reported cases of children with similar malformations. According to the aforementioned authors, the first observation of this syndrome dates back to 1883. Today, OFDS is classified as a distinct subgroup of ciliopathies, which involves at least 16 causal genes. The different subtypes show a wide variety and overlap of clinical symptoms. The incidence is 1 in 50,000 live births, and it is observed in approximately 1.5:1000 patients with cleft lip, cleft palate, or both. In this chapter, the pathogenesis, clinical manifestations, classification, and management of OFDS are reviewed.

AB - Orofaciodigital syndromes (OFDS) are rare hereditary conditions caused by disorders of primary cilia. Clinical manifestations comprise facial (hypertelorism, low-set ears), oral cavity (lingual hamartoma, abnormal frenulum, lobulated tongue), and digital abnormalities (polydactyly, brachydactyly) associated with a wide spectrum of additional features. In 1954, Papillon-Leage and Psaume described a syndrome that involved malformation of the face, oral cavity, and digits. Morton and Jordan (1935), Mohr (1941), and Gorlin and Psaume (1962) reported cases of children with similar malformations. According to the aforementioned authors, the first observation of this syndrome dates back to 1883. Today, OFDS is classified as a distinct subgroup of ciliopathies, which involves at least 16 causal genes. The different subtypes show a wide variety and overlap of clinical symptoms. The incidence is 1 in 50,000 live births, and it is observed in approximately 1.5:1000 patients with cleft lip, cleft palate, or both. In this chapter, the pathogenesis, clinical manifestations, classification, and management of OFDS are reviewed.

M3 - Chapter

SN - 978-3-030-87892-4

SP - 235

EP - 238

BT - Neurocutaneous Disorders

A2 - Panteliadis, Christos

A2 - Benjamin, Ramsis

A2 - Hagel, Christian

PB - Springer International Publishing

CY - Zürich

ER -