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

Kettner D. Kongenitaler Zungendefekt. Deutsche Medizinische

Wochenschrift 1907; 33:532.

Rosenthal R. Aglossia congenita: report a case of the condition

combined with other congenital malformations. Am J Dis

Child 1932; 44:383 -9.

Hanhart E. Uber die Kombination von peromelie mit mikrognathie:

ein neues syndrome bein Menschen, entsprechend

der akroteriasis congenital von wreidt und mohr, beim rinde.

Arch Julius Klaus Stift Vererbungsforsch 1950; 25:531 -40.

Castillo ST, Rojas JZ, Monasterio LA. Síndrome de Hanhart.

Rev Child Ped 1985; 56:180 -3.

Estrada RC, Rivas RG, Marcos RA, Romero AB, Lezcano

AR. Síndrome de Hanhart (Síndrome de aglossia -adactilia).

A propósito de dos casos. An Esp Pediatr 1990; 33:465 -8.

Postai GV, Freitas RS, Roça GB, Menacho AM, Souza J, Alonso

N, Passos -Bueno MR. Síndrome de Hanhart: relato de casos.

Arquivos Catarinenses de Medicina 2009; 38:278 -80.

Nevin NC, Burrows D, Allen G, Kernohan DC. Aglossia-

-adactylia syndrome. J Med Genet 1975; 12:89 -93.

Firth HV, Boyd PA, Chamberlain PF, Mackenzie IZ, Morris-

-Kay GM, Huson SM. Analysis of limb reduction defects in

babies exposed to chorionic villus sampling. Lancet 1994;

:1069 -71.

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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 2024Oct.12];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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