HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3.

Abstract
We describe a-2-year-old boy who presented with a neonatal history of thrombocytopenia associated with a constellation of limb malformations mimicking split hand/foot malformation with long bone deficiency (SHFLD) syndrome. Limb malformations consisted of unilateral monodactyly with radial aplasia, unilateral split foot and bilateral club foot. Tibial aplasia of one limb and tibial hypoplasia of the other limb were notable. Partial agenesis of the sacrum was additional skeletal malformation. Craniofacial features included dense thick scalp hair, narrow frontal area, thick eye-brows, deep-set eyes, depressed nasal bridge, and small overhanging nasal tip, full-cheeks, and large ears. Array-CGH showed duplication of the short arm of chromosome 17p13.3 in the boy and his father, respectively. The father was free from any skeletal abnormalities, though he shares similar craniofacial dysmorphic features like his son. In addition, a paternal sib (uncle of the proband) manifested a phenotype similar to that of the proband. To the best of our knowledge the overall phenotypic and genotypic characterizations were consistent but not completely compatible with the traditional type of TAR syndrome or with SHFLD syndrome. We report on what might be a novel variant of SHFLD associated with transient thrombocytopenia, dysmorphic facial features, and a constellation of bone malformations.
AuthorsAli Al Kaissi, Rudolf Ganger, Katharina M Rötzer, Klaus Klaushofer, Franz Grill
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 164A Issue 9 Pg. 2338-43 (Sep 2014) ISSN: 1552-4833 [Electronic] United States
PMID24838992 (Publication Type: Case Reports, Journal Article)
Copyright© 2014 Wiley Periodicals, Inc.
Topics
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17 (genetics)
  • Ectromelia (complications, diagnostic imaging, genetics, surgery)
  • Family
  • Humans
  • Limb Deformities, Congenital (complications, diagnostic imaging, genetics, surgery)
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Radiography
  • Thrombocytopenia (complications)
  • Tibia (abnormalities, diagnostic imaging, surgery)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: