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Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome

โœ Scribed by Urban, Maik; Opitz, Charlotte; Bommer, Christiane; Enders, Herbert; Tinschert, Sigrid; Witkowski, Regine

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
33 KB
Volume
79
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980923)79:3<155::aid-ajmg1>3.0.co;2-m

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โœฆ Synopsis

We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetrical deficiencies of the long bones of the lower limbs. Haematological evaluation demonstrated a leukaemoid reaction during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first two years of life. Intellectual development has been normal. Comparison with two similar cases from the literature suggests a non-random phenotypic overlap of Roberts syndrome (MIM 268300) and TAR syndrome (MIM 274000). Such clinical constellations may be key observations to understand the genetic relationship of Roberts syndrome and TAR syndrome in future phenotype-genotype correlations.

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