Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome

Research output: Contribution to journalArticle

Abstract

Three patients are reported, including two dizygotic twins born to consanguineous parents, presenting with a disorder characterized by growth retardation, microcephaly, distinct facial features with hypotelorism, with or without epicanthic folds, prominent lips, low set ears, tetralogy of Fallot in two cases, short first metacarpals and thumbs, and hypoplastic radius and ulna in one patient. These features overlap those previously reported in two male siblings and suggest that this association of microcephaly-facio-cardio-skeletal defects could represent a unique autosomal or X-linked recessive disorder.

Original languageEnglish
Pages (from-to)135-138
Number of pages4
JournalClinical Dysmorphology
Volume18
Issue number3
DOIs
Publication statusPublished - Jul 2009

Fingerprint

Microcephaly
Growth Disorders
Dizygotic Twins
Ulna
Metacarpal Bones
Tetralogy of Fallot
Lip
Ear
Siblings
Parents
Hadziselimovic Syndrome
Thumb deformity

Keywords

  • Hadziselimovic syndrome
  • Mental retardation
  • Microcephaly
  • Microcephaly-facio-cardio-skeletal syndrome
  • Short stature
  • Skeletal defects
  • Tetralogy of Fallot

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine

Cite this

Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome. / Dallapiccola, Bruno; Digilio, Maria Cristina; Zatterale, Adriana; Galeone, Rita; Capolino, Rossella; Mingarelli, Rita.

In: Clinical Dysmorphology, Vol. 18, No. 3, 07.2009, p. 135-138.

Research output: Contribution to journalArticle

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