Tags

Type your tag names separated by a space and hit enter

Van der Woude and Popliteal Pterygium Syndromes.
J Craniofac Surg. 2018 Sep; 29(6):1434-1436.JC

Abstract

: Van der Woude syndrome is the most generic form of syndromic orofacial cleft, present in approximately 2% of all cleft patients. The lower lip pits with or without cleft lip and/or palate is typical of this syndrome. Popliteal pterygium syndrome (PPS), also known as popliteal web syndrome or fasciogenito-popliteal syndrome, was first described by Trelat in 1869, the incidence is approximately 1 in 300,000 live births. The term PPS was coined by Gorlin et al in 1968 based on the most unusual anomaly, the popliteal pterygium. Popliteal pterygium syndrome shares features with van der Woude syndrome but, in addition, is characterized by genital anomalies, syndactyly of fingers and toes, and toenail dysplasia. In some patients, oral or eyelid synechiae are present. Van der Woude syndrome and PPS are autosomal dominantly inherited disorders caused by heterozygous mutations in IRF6.

OBJECTIVE::

To report the familial nature of the disease in the mother and son, and to summarize the clinical characteristics, treatment, and outcomes in both patients.

Authors+Show Affiliations

Association PIEL. School of Medicine, National University of Buenos Aires. Orthodontic Department, Maimonides University Dental School.Association PIEL. Orthopedic Department, Children Hospital of Buenos Aires.Association PIEL. Anesthesia Department, Children Hospital of Buenos Aires, Buenos Aires, Argentina.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29916977

Citation

Bennun, Ricardo D., et al. "Van Der Woude and Popliteal Pterygium Syndromes." The Journal of Craniofacial Surgery, vol. 29, no. 6, 2018, pp. 1434-1436.
Bennun RD, Stefano E, Moggi LE. Van der Woude and Popliteal Pterygium Syndromes. J Craniofac Surg. 2018;29(6):1434-1436.
Bennun, R. D., Stefano, E., & Moggi, L. E. (2018). Van der Woude and Popliteal Pterygium Syndromes. The Journal of Craniofacial Surgery, 29(6), 1434-1436. https://doi.org/10.1097/SCS.0000000000004698
Bennun RD, Stefano E, Moggi LE. Van Der Woude and Popliteal Pterygium Syndromes. J Craniofac Surg. 2018;29(6):1434-1436. PubMed PMID: 29916977.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Van der Woude and Popliteal Pterygium Syndromes. AU - Bennun,Ricardo D, AU - Stefano,Eduardo, AU - Moggi,Luis E, PY - 2018/6/20/pubmed PY - 2018/12/29/medline PY - 2018/6/20/entrez SP - 1434 EP - 1436 JF - The Journal of craniofacial surgery JO - J Craniofac Surg VL - 29 IS - 6 N2 - : Van der Woude syndrome is the most generic form of syndromic orofacial cleft, present in approximately 2% of all cleft patients. The lower lip pits with or without cleft lip and/or palate is typical of this syndrome. Popliteal pterygium syndrome (PPS), also known as popliteal web syndrome or fasciogenito-popliteal syndrome, was first described by Trelat in 1869, the incidence is approximately 1 in 300,000 live births. The term PPS was coined by Gorlin et al in 1968 based on the most unusual anomaly, the popliteal pterygium. Popliteal pterygium syndrome shares features with van der Woude syndrome but, in addition, is characterized by genital anomalies, syndactyly of fingers and toes, and toenail dysplasia. In some patients, oral or eyelid synechiae are present. Van der Woude syndrome and PPS are autosomal dominantly inherited disorders caused by heterozygous mutations in IRF6. OBJECTIVE:: To report the familial nature of the disease in the mother and son, and to summarize the clinical characteristics, treatment, and outcomes in both patients. SN - 1536-3732 UR - https://www.unboundmedicine.com/medline/citation/29916977/Van_der_Woude_and_Popliteal_Pterygium_Syndromes_ L2 - http://dx.doi.org/10.1097/SCS.0000000000004698 DB - PRIME DP - Unbound Medicine ER -