Abstract
Here it is reported a male newborn baby with features of asphyxiating thoracic dystrophy (ATD) with facial dysmorphism. The disproportionate rhizomelic short stature, narrow thorax, long fibulae, wide metaphysis and trident acetabule are consistent with diagnosis of ATD. In addition the baby had facial dysmorphism and broad thumbs and great toes similar to Oto-palato-digital syndrome type II (OPD II). The association of these features with ATD is not reported till date.
References
Holder SE, Winter RM, Syndrome of the mouth. Oto-palatodigital syndrome type II.J Med Genet 1993; 30: 310–313.
Savarirayan R, Cormier-Daire V, Unger Set al. Oto-palatodigital syndrome, type II: report of three cases with further delineation of the chondro osseous morphology.Am J Med Genet 2000; 95:193–200.
Pries S, Kemperdick H, Majewski F. Oto-palato-digital syndrome type II in two unrelated boysClin Genet 45: 154–161.
Robertson S, Gunn T, Allen B, Chapman C, Becroft, D. Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in four generation kindred.Am J Med Genet 1997; 71: 341–347.
Verloes A, Lesenfants S, Barr Met al. Fronto-otopalatodigital dysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.Am J Med Genet 2000; 90: 407–422.
Robertson SP, Twigg SR, Sutherland-Smith AJet al. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.Nat Genet 2003; 33: 487–491.
Robertson SP. Molecular pathology of filamin A: diverse phenotypes, many functions.Clin Dysmorphol 2004; 13: 123–131.
Nishimura G, Horiuchi T, Kim OH, Sasamoto Y. Atypical skeletal changes in Otopalatodigital syndrome type II: Phenotypic overlap among Otopalatodigital syndrome type II: Boomerang dysplasia, Atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.Am J Med Genet 1997; 73: 132–138.
Ho NC, Francomano C, Van Allen M. Jeune asphyxiating thoracic dystrophy an short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.Am J Med Genet 2000; 90: 310–314.
Majewski F, Ozturk B, Gillessen-Kaesbach G. Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and aspenia: compound heterozygosity Jeune-Mohrand Jeune-Ivemark.Am J Med Genet 1996; 63: 74–79.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Sankar, V.H., Phadke, S.R. Asphyxiating thoracic dystrophy with facial dysmorphism. Indian J Pediatr 73, 1115–1118 (2006). https://doi.org/10.1007/BF02763060
Issue Date:
DOI: https://doi.org/10.1007/BF02763060