Tags

Type your tag names separated by a space and hit enter

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.
Am J Med Genet. 1993 Feb 01; 45(3):320-6.AJ

Abstract

We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied. Consanguinity is present in 1 family. In addition to the described patient, 2 other short-limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable.

Authors+Show Affiliations

Simon Winter Institution of Human Genetics, Bnai-Zion Medical Center, Technion-Faculty of Medicine, Haifa, Israel.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

8434618

Citation

Borochowitz, Z, et al. "Spondylo-meta-epiphyseal Dysplasia (SMED), Short Limb-hand Type: a Congenital Familial Skeletal Dysplasia With Distinctive Features and Histopathology." American Journal of Medical Genetics, vol. 45, no. 3, 1993, pp. 320-6.
Borochowitz Z, Langer LO, Gruber HE, et al. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. Am J Med Genet. 1993;45(3):320-6.
Borochowitz, Z., Langer, L. O., Gruber, H. E., Lachman, R., Katznelson, M. B., & Rimoin, D. L. (1993). Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. American Journal of Medical Genetics, 45(3), 320-6.
Borochowitz Z, et al. Spondylo-meta-epiphyseal Dysplasia (SMED), Short Limb-hand Type: a Congenital Familial Skeletal Dysplasia With Distinctive Features and Histopathology. Am J Med Genet. 1993 Feb 1;45(3):320-6. PubMed PMID: 8434618.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. AU - Borochowitz,Z, AU - Langer,L O,Jr AU - Gruber,H E, AU - Lachman,R, AU - Katznelson,M B, AU - Rimoin,D L, PY - 1993/2/1/pubmed PY - 2001/3/28/medline PY - 1993/2/1/entrez SP - 320 EP - 6 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 45 IS - 3 N2 - We report on a "new" severe short-limb bone dysplasia which can be labeled descriptively a spondylo-meta-epiphyseal dysplasia. The 3 patients were born to 2 unrelated Sepharadic Jewish families and a Puerto Rican family. Clinical abnormalities include small stature with short limbs including short hands, a short nose with wide nasal bridge and wide nostrils, a long philtrum, ocular hypertelorism, retro/micrognathia, and a narrow chest. Radiological abnormalities include platyspondyly, short tubular bones with very abnormal metaphyses and epiphyses beyond early infancy, short ribs, and a typical evolution of bony changes over time. Chondroosseous morphology and ultrastructure document sparse matrix and degenerating chondrocytes surrounded by dense amorphous material in the 1 patient studied. Consanguinity is present in 1 family. In addition to the described patient, 2 other short-limb sibs, who did not survive infancy, were born into this family. Even in the absence of any photographic or radiologic documentation of these other 2 infants, autosomal recessive mode of inheritance seems probable. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8434618/Spondylo_meta_epiphyseal_dysplasia__SMED__short_limb_hand_type:_a_congenital_familial_skeletal_dysplasia_with_distinctive_features_and_histopathology_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=45&issue=3&spage=320 DB - PRIME DP - Unbound Medicine ER -