Related Experiment Video

Updated: Jul 20, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Published on: November 4, 2025

Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes

Murat Cakir1, Ilke Mungan, Melike Makuloglu

  • 1Department of Pediatrics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey. muratcak@hotmail.com

Indian Journal of Pediatrics
|August 29, 2006
PubMed

Insights

This case study details a male infant with multiple congenital anomalies, including hydrocephalus and cleft palate. Differential diagnosis considered syndromes like Meckel and Smith-Lemli-Opitz.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Medicine

Background:

  • Congenital anomalies present a significant diagnostic challenge.
  • Syndromic presentations require careful differential diagnosis.

Observation:

  • A male infant presented with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis, and atrial septal defect.
  • Karyotype confirmed a 46 XY chromosomal complement.

Findings:

  • The observed combination of malformations overlaps with features of hydrolethalus syndrome, Meckel syndrome, Smith-Lemli-Opitz syndrome, and pseudotrisomy 13.
  • This constellation suggests a complex genetic or developmental etiology.

Implications:

  • Accurate diagnosis is crucial for genetic counseling and family planning.
  • Understanding overlapping syndromes aids in refining diagnostic criteria and future research.

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