Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Al Kaissi, A; Ganger, R; Rötzer, KM; Klaushofer, K; Grill, F.
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3.
Am J Med Genet A. 2014; 164A(9):2338-2343
Doi: 10.1002/ajmg.a.36614
(- Case Report)
Web of Science
PubMed
FullText
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- Co-Autor*innen der Med Uni Graz
- Rötzer Katharina Magdalena
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- 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. © 2014 Wiley Periodicals, Inc.
- Find related publications in this database (using NLM MeSH Indexing)
- Child -
- Child, Preschool -
- Chromosome Mapping -
- Chromosomes, Human, Pair 17 - genetics
- Ectromelia - complications
- Ectromelia - diagnostic imaging
- Ectromelia - genetics
- Ectromelia - surgery
- Family -
- Humans -
- Limb Deformities, Congenital - complications
- Limb Deformities, Congenital - diagnostic imaging
- Limb Deformities, Congenital - genetics
- Limb Deformities, Congenital - surgery
- Male -
- Oligonucleotide Array Sequence Analysis -
- Radiography -
- Thrombocytopenia - complications
- Tibia - abnormalities
- Tibia - diagnostic imaging
- Tibia - surgery
- Find related publications in this database (Keywords)
- transient thrombocytopenia
- split hand/foot malformation with long bone deficiency
- duplication of the short arm of chromosome 17p13.3
- radiographs