HANHART SYNDROME – CLINICAL REPORT

Authors

  • Helena Rios Department of Neonatal, Centro Hospitalar e Universitário de Coimbra
  • Cátia Carnide Obstetrics Department, Centro Hospitalar e Universitário de Coimbra
  • Sofia Morais Department of Neonatal, Centro Hospitalar e Universitário de Coimbra
  • Miguel Branco Obstetrics Department, Centro Hospitalar e Universitário de Coimbra
  • Joana Mesquita Department of Neonatal, Centro Hospitalar e Universitário de Coimbra
  • Eulália Galhano Obstetrics Department, Centro Hospitalar e Universitário de Coimbra
  • Lina Ramos Department of Medical Genetics, Centro Hospitalar e Universitário de Coimbra

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v22.i1.12897

Keywords:

Hanhart syndrome, oromandibular and limb malformations

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.

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References

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Published

2017-08-22

How to Cite

1.
Rios H, Carnide C, Morais S, Branco M, Mesquita J, Galhano E, Ramos L. HANHART SYNDROME – CLINICAL REPORT. REVNEC [Internet]. 2017Aug.22 [cited 2024Jul.17];22(1):33-5. Available from: https://revistas.rcaap.pt/nascercrescer/article/view/12897

Issue

Vol. 22 No. 1 (2013)

Section

Case Reports

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