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Síndrome de Hanhart – caso clínico
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Advisor(s)
Abstract(s)
RESUMO
Introdução: Em 1950 Hanhart descreveu três casos de aglossia e deformidades dos membros. A associação de malformações
oromandibulares e dos membros é rara, verificando-se grande variabilidade fenotípica entre os casos descritos.
Caso Clínico: Gravidez com diagnóstico pré-natal ecográfico (24 semanas) de agenesia do pé direito, ausência do primeiro
dedo do pé esquerdo e presença apenas da primeira falange
do primeiro e quinto dedos da mão esquerda. Às 38 semanas de
gestação nasce um recém-nascido, sexo masculino, com hipotonia
generalizada e dificuldade respiratória com necessidade de manobras de reanimação. Ao exame físico destacava-se a presença
de microretrognatia, microstomia e várias malformações ósseas a nível das mãos e pés.
Desde as primeiras horas de vida que apresentou quadro de apneias com dessaturações recorrentes vindo a falecer na
decorrência de um desses episódios.
Discussão: A associação de microstomia, microretrognatia,
hipoglossia, malformações dos membros e atingimento dos pares cranianos, permite-nos estabelecer o diagnóstico clínico
de Síndrome de Hanhart. O seu diagnóstico nem sempre é fácil,
dada a grande variabilidade fenotípica.
ABSTRACT Introduction: In 1950, Hanhart described three cases of aglossia and limb malformations. The association of congenital oromandibular and limb malformations is rare and has a wide phenotypic variability among the cases described. Case Report: Pregnancy with prenatal ultrasound diagnosis (24 weeks) of agenesis of the right foot, absence of the first finger of the left foot and presence of only the first phalange of the first and fifth fingers of the left hand. At 38 weeks of gestation, a male newborn was born with generalized hypotonia and respiratory distress requiring resuscitation. Physical examination showed microretrognathia, microstomy and several bone malformations of the hands and feet. From the first hours of life he presented progressive apneas with dessaturation, dying as result of one of those episodes. Discussion: The association of microstomy, microretrognathia, hypoglossia, limb malformations and signs suggestive of cranial nerve compromise, allows us to establish the clinical diagnosis of Hanhart Syndrome. The diagnosis is not always easy, given the wide phenotypic variability.
ABSTRACT Introduction: In 1950, Hanhart described three cases of aglossia and limb malformations. The association of congenital oromandibular and limb malformations is rare and has a wide phenotypic variability among the cases described. Case Report: Pregnancy with prenatal ultrasound diagnosis (24 weeks) of agenesis of the right foot, absence of the first finger of the left foot and presence of only the first phalange of the first and fifth fingers of the left hand. At 38 weeks of gestation, a male newborn was born with generalized hypotonia and respiratory distress requiring resuscitation. Physical examination showed microretrognathia, microstomy and several bone malformations of the hands and feet. From the first hours of life he presented progressive apneas with dessaturation, dying as result of one of those episodes. Discussion: The association of microstomy, microretrognathia, hypoglossia, limb malformations and signs suggestive of cranial nerve compromise, allows us to establish the clinical diagnosis of Hanhart Syndrome. The diagnosis is not always easy, given the wide phenotypic variability.
Description
Keywords
Síndrome de Hanhart malformações oromandibulares e dos membros Hanhart syndrome oromandibular and limb malformations
Citation
Nascer e Crescer 2013; 22(1): 33-35