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Clinical Image
1 (
1
); 47-48
doi:
10.25259/WJWCH_2022_18

Craniosynostosis with symmetrical syndactyly (Apert syndrome)

Division of Neonatology, Department of Pediatric Medicine, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India
Department of Neonatology, Nowrosjee Wadia Maternity Hospital, Mumbai, Maharashtra, India
Corresponding author: Dr. Suma Sundararaju, Division of Neonatology, Department of Pediatric Medicine, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India. suma.sund@gmail.com
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This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

How to cite this article: Sundararaju S, More K. Craniosynostosis with symmetrical syndactyly (Apert syndrome). Wadia J Women Child Health 2022;1(1):47-8.

We report a term male infant weighing 3100 g, appropriate for gestational age, born to a 27-year-old woman out of 4th degree consanguinity by lower segment caesarean section with an uneventful gestational period and delivery.

Clinical examination revealed facial dysmorphism, brachycephaly with craniosynostosis of coronal sutures, protruding forehead with a beaked nose, hypertelorism, bilateral orbital proptosis and midfacial hypoplasia along with syndactyly [Figure 1]. Complete fusion of the bones of the second to the fourth fingers, and one single, continuous nail, the so-called “mitten hand” syndactyly.[1]

Figure 1:: (a) Protruding forehead with a beaked nose, hypertelorism, (b) Bilateral orbital proptosis and midfacial hypoplasia along, (c) Syndactyly, (d) Complete fusion of the bones of the second to the fourth fingers, and one single, continuous nail, the so-called “mitten hand” syndactyly.

After he developed pooling of secretions and respiratory distress with stridor which increased at rest, he was operated for choanal atresia and was on room air by the 3rd post-operative day. Neurologically, neonatal reflexes, muscle tone and power were acceptable.

The baby is currently planned for surgical correction of craniosynostosis in early infancy and a genetic study for a final diagnosis (Apert syndrome, Crouzon syndrome or Pffeifer syndrome).[2]

Acknowledgement

Dr. Dhaval Kapadia, NICU Fellow.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

  1. , , . Congenital syndactyly In: Pediatric Hand Therapy. Amsterdam, Netherlands: Elsevier; . p. 93-107.
    [CrossRef] [Google Scholar]
  2. , , , , , , et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995;9:165-72.
    [CrossRef] [PubMed] [Google Scholar]

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