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A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome?
Am J Med Genet. 2002 Apr 15; 109(1):56-60.AJ

Abstract

A Thai mother and son with distal symphalangism and other associated abnormalities are reported. Distal and middle phalanges of fingers and toes 2-5 were either aplastic/hypoplastic or fused between the corresponding digits. The second fingers and fourth fingernails were most severely affected in both patients. The mother's hands were less severely affected; the middle and distal phalanges of her hands were malformed and fused. Besides the absence of fusion lines, the shape of the fused middle and distal phalanges was quite different from that of other types of fusion, i.e., fused bones in both patients did not maintain the normal configuration of bone, referring to as "middle-distal phalangeal complex". Distal symphalangism was observed in toes 2-5 of the mother and in toe 3 of the son. Both patients had additional clinical manifestations such as narrowing of the zygomatic arch, dental pulp stone, microdontia of a mandibular permanent central incisor, cone-shaped epiphyses of middle phalanges of fingers, and absence of scaphoid, trapezium, trapezoid, and pisiform bones. Mutation analysis of NOG and ROR2, the genes responsible for proximal symphalangism and brachydactyly type B, respectively, was negative.

Authors+Show Affiliations

Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand. dnpdi001@chiangmai.ac.thNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11932993

Citation

Kantaputra, Piranit N., et al. "A Thai Mother and Son With Distal Symphalangism, Hypoplastic Carpal Bones, Microdontia, Dental Pulp Stones, and Narrowing of the Zygomatic Arch: a New Distal Symphalangism Syndrome?" American Journal of Medical Genetics, vol. 109, no. 1, 2002, pp. 56-60.
Kantaputra PN, Kinoshita A, Limwonges C, et al. A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome? Am J Med Genet. 2002;109(1):56-60.
Kantaputra, P. N., Kinoshita, A., Limwonges, C., Praditsup, O., & Niikawa, N. (2002). A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome? American Journal of Medical Genetics, 109(1), 56-60.
Kantaputra PN, et al. A Thai Mother and Son With Distal Symphalangism, Hypoplastic Carpal Bones, Microdontia, Dental Pulp Stones, and Narrowing of the Zygomatic Arch: a New Distal Symphalangism Syndrome. Am J Med Genet. 2002 Apr 15;109(1):56-60. PubMed PMID: 11932993.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome? AU - Kantaputra,Piranit N, AU - Kinoshita,Akira, AU - Limwonges,Chanin, AU - Praditsup,Oranud, AU - Niikawa,Norio, PY - 2002/4/5/pubmed PY - 2002/6/20/medline PY - 2002/4/5/entrez SP - 56 EP - 60 JF - American journal of medical genetics JO - Am J Med Genet VL - 109 IS - 1 N2 - A Thai mother and son with distal symphalangism and other associated abnormalities are reported. Distal and middle phalanges of fingers and toes 2-5 were either aplastic/hypoplastic or fused between the corresponding digits. The second fingers and fourth fingernails were most severely affected in both patients. The mother's hands were less severely affected; the middle and distal phalanges of her hands were malformed and fused. Besides the absence of fusion lines, the shape of the fused middle and distal phalanges was quite different from that of other types of fusion, i.e., fused bones in both patients did not maintain the normal configuration of bone, referring to as "middle-distal phalangeal complex". Distal symphalangism was observed in toes 2-5 of the mother and in toe 3 of the son. Both patients had additional clinical manifestations such as narrowing of the zygomatic arch, dental pulp stone, microdontia of a mandibular permanent central incisor, cone-shaped epiphyses of middle phalanges of fingers, and absence of scaphoid, trapezium, trapezoid, and pisiform bones. Mutation analysis of NOG and ROR2, the genes responsible for proximal symphalangism and brachydactyly type B, respectively, was negative. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/11932993/A_Thai_mother_and_son_with_distal_symphalangism_hypoplastic_carpal_bones_microdontia_dental_pulp_stones_and_narrowing_of_the_zygomatic_arch:_a_new_distal_symphalangism_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2002&volume=109&issue=1&spage=56 DB - PRIME DP - Unbound Medicine ER -