Literature DB >> 17202643

Asphyxiating thoracic dystrophy with facial dysmorphism.

V H Sankar1, Shubha R Phadke.   

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.

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Year:  2006        PMID： 17202643     DOI： 10.1007/bf02763060

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  10 in total

1.  Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.

Authors:  A Verloes; S Lesenfants; M Barr; D K Grange; H Journel; J Lombet; G Mortier; E Roeder
Journal:  Am J Med Genet       Date:  2000-02-28

2.  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.

Authors:  G Nishimura; T Horiuchi; O H Kim; Y Sasamoto
Journal:  Am J Med Genet       Date:  1997-12-12

3.  Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark?

Authors:  E Majewski; B Oztürk; G Gillessen-Kaesbach
Journal:  Am J Med Genet       Date:  1996-05-03

4.  Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred.

Authors:  S Robertson; T Gunn; B Allen; C Chapman; D Becroft
Journal:  Am J Med Genet       Date:  1997-08-22

5.  Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.

Authors:  R Savarirayan; V Cormier-Daire; S Unger; R S Lachman; P J Roughley; S F Wagner; D L Rimoin; W R Wilcox
Journal:  Am J Med Genet       Date:  2000-11-27

6.  Otopalatodigital syndrome type II.

Authors:  S E Holder; R M Winter
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

7.  Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.

Authors:  N C Ho; C A Francomano; M van Allen
Journal:  Am J Med Genet       Date:  2000-02-14

8.  Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Authors:  Stephen P Robertson; Stephen R F Twigg; Andrew J Sutherland-Smith; Valérie Biancalana; Robert J Gorlin; Denise Horn; Susan J Kenwrick; Chong A Kim; Eva Morava; Ruth Newbury-Ecob; Karen H Orstavik; Oliver W J Quarrell; Charles E Schwartz; Deborah J Shears; Mohnish Suri; John Kendrick-Jones; Andrew O M Wilkie
Journal:  Nat Genet       Date:  2003-03-03       Impact factor: 38.330

9.  Molecular pathology of filamin A: diverse phenotypes, many functions.

Authors:  Stephen P Robertson
Journal:  Clin Dysmorphol       Date:  2004-07       Impact factor: 0.816

Review 10.  Oto-palato-digital syndrome type II in two unrelated boys.

Authors:  S Preis; H Kemperdick; F Majewski
Journal:  Clin Genet       Date:  1994-03       Impact factor: 4.438
  10 in total
  2 in total

1.  Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound.

Authors:  Kewal A Mistry; Pokhraj P Suthar; Siddharth R Bhesania; Ankitkumar Patel
Journal:  Pol J Radiol       Date:  2015-06-07

2.  Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes.

Authors:  Hanna Moczulska; Marcin Serafin; Katarzyna Wojda; Maciej Borowiec; Piotr Sieroszewski
Journal:  J Clin Med       Date:  2022-03-10       Impact factor: 4.241
  2 in total

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