Two Rare Syndromic Syndactyly Cases in Neonates

Introduction Isolated findings of syndactyly are benign. However, syndactyly can be associated with rare syndromes that need to be diagnosed for further management and for genetic counseling. Methods We present two cases of syndromic syndactyly in neonates. The first case is a 13-day-old...

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Autor principal:	Pooja Prabhakar Kamath
Formato:	article
Lenguaje:	EN
Publicado:	Thieme Medical and Scientific Publishers Pvt. Ltd. 2021
Materias:	syndactyly otopalatodigital syndrome orofaciodigital syndrome Orthopedic surgery RD701-811
Acceso en línea:	https://doaj.org/article/8ff9cd05ade44ceda850de38a6d66740
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spelling	oai:doaj.org-article:8ff9cd05ade44ceda850de38a6d667402021-11-29T23:31:05ZTwo Rare Syndromic Syndactyly Cases in Neonates2455-74202455-094910.1055/s-0041-1730256https://doaj.org/article/8ff9cd05ade44ceda850de38a6d667402021-05-01T00:00:00Zhttp://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1730256https://doaj.org/toc/2455-7420https://doaj.org/toc/2455-0949Introduction Isolated findings of syndactyly are benign. However, syndactyly can be associated with rare syndromes that need to be diagnosed for further management and for genetic counseling. Methods We present two cases of syndromic syndactyly in neonates. The first case is a 13-day-old female neonate with dysmorphic features. The neonate had clinical features of prominent forehead, hypertelorism, widely separated sagittal and metopic sutures, down-slanting eyes, low set ears, depressed nasal bridge, micrognathia, cleft palate, pectus excavatum, brachydactyly, and syndactyly of the second to fourth fingers bilaterally in upper limbs and in lower limbs. The second case is a 10-day-old male neonate with dysmorphism in the form of cleft alveolar ridge and palate, hyperplastic frenula, hypoplastic alar cartilage, syndactyly of the left hand, clinodactyly of the left lower limb toes, and amniotic bands. Discussion Case 1 was diagnosed as otopalatodigital syndrome because of the characteristic clinical features. This is a rare syndrome associated with syndactyly that often goes undiagnosed. Otopalatodigital syndrome spectrum disorders comprise of four phenotypically related conditions: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia, and Melnick–Needles syndrome. As it is associated with x-linked inheritance, its severity is more in males. Case 2 was diagnosed to have orofaciodigital syndrome because of the characteristic clinical features. It is another rare syndrome associated with syndactyly having abnormalities in the development of the oral cavity, face, and digits along with intellectual disability and renal system impairment. Conclusion There are fewer publications on these syndromes as they are rare and diagnosis is difficult. Recognizing these syndromes is key to further management and for genetic counseling.Pooja Prabhakar KamathThieme Medical and Scientific Publishers Pvt. Ltd.articlesyndactylyotopalatodigital syndromeorofaciodigital syndromeOrthopedic surgeryRD701-811ENInternational Journal of Recent Surgical and Medical Sciences, Vol 7, Iss 02, Pp 91-93 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	syndactyly otopalatodigital syndrome orofaciodigital syndrome Orthopedic surgery RD701-811
spellingShingle	syndactyly otopalatodigital syndrome orofaciodigital syndrome Orthopedic surgery RD701-811 Pooja Prabhakar Kamath Two Rare Syndromic Syndactyly Cases in Neonates
description	Introduction Isolated findings of syndactyly are benign. However, syndactyly can be associated with rare syndromes that need to be diagnosed for further management and for genetic counseling. Methods We present two cases of syndromic syndactyly in neonates. The first case is a 13-day-old female neonate with dysmorphic features. The neonate had clinical features of prominent forehead, hypertelorism, widely separated sagittal and metopic sutures, down-slanting eyes, low set ears, depressed nasal bridge, micrognathia, cleft palate, pectus excavatum, brachydactyly, and syndactyly of the second to fourth fingers bilaterally in upper limbs and in lower limbs. The second case is a 10-day-old male neonate with dysmorphism in the form of cleft alveolar ridge and palate, hyperplastic frenula, hypoplastic alar cartilage, syndactyly of the left hand, clinodactyly of the left lower limb toes, and amniotic bands. Discussion Case 1 was diagnosed as otopalatodigital syndrome because of the characteristic clinical features. This is a rare syndrome associated with syndactyly that often goes undiagnosed. Otopalatodigital syndrome spectrum disorders comprise of four phenotypically related conditions: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia, and Melnick–Needles syndrome. As it is associated with x-linked inheritance, its severity is more in males. Case 2 was diagnosed to have orofaciodigital syndrome because of the characteristic clinical features. It is another rare syndrome associated with syndactyly having abnormalities in the development of the oral cavity, face, and digits along with intellectual disability and renal system impairment. Conclusion There are fewer publications on these syndromes as they are rare and diagnosis is difficult. Recognizing these syndromes is key to further management and for genetic counseling.
format	article
author	Pooja Prabhakar Kamath
author_facet	Pooja Prabhakar Kamath
author_sort	Pooja Prabhakar Kamath
title	Two Rare Syndromic Syndactyly Cases in Neonates
title_short	Two Rare Syndromic Syndactyly Cases in Neonates
title_full	Two Rare Syndromic Syndactyly Cases in Neonates
title_fullStr	Two Rare Syndromic Syndactyly Cases in Neonates
title_full_unstemmed	Two Rare Syndromic Syndactyly Cases in Neonates
title_sort	two rare syndromic syndactyly cases in neonates
publisher	Thieme Medical and Scientific Publishers Pvt. Ltd.
publishDate	2021
url	https://doaj.org/article/8ff9cd05ade44ceda850de38a6d66740
work_keys_str_mv	AT poojaprabhakarkamath tworaresyndromicsyndactylycasesinneonates
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Two Rare Syndromic Syndactyly Cases in Neonates

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