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Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes.
J Med Genet. 1999 Jun; 36(6):461-6.JM

Abstract

Short rib-polydactyly syndromes (SRPS) are a heterogeneous group of recessively inherited lethal skeletal dysplasias. Four types have been recognised. However, overlap in the clinical and radiological features of the four types has led to difficulties in distinguishing between them. The congenital infection-like syndrome is an autosomal recessive syndrome characterised by mental retardation, microcephaly, seizures, and intracranial calcifications. We report a complex consanguineous family of Baluchi origin in whom short rib-polydactyly type III and congenital infection-like syndrome are segregating. Four children inherited SRPS III, one inherited congenital infection-like syndrome, and one inherited both. Although the radiological features in all the children with SRPS in this report were typical of type III, there was overlap in the clinical features with the other types of SRP syndromes. Furthermore, the child who inherited both SRPS III and congenital infection-like syndrome had CNS malformations in addition to periventricular calcification. CNS malformations have been described in SRPS types II and IV but not type III. This report further highlights the overlap between the different types of SRP syndrome. Moreover, it draws attention to the importance of considering the possibility of two recessive syndromes in the same child in complex consanguineous families when features overlap two syndromes.

Authors+Show Affiliations

Department of Paediatrics, Faculty of Medicine and Health Science, UAE University, Al Ain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10874634

Citation

al-Gazali, L I., et al. "Complex Consanguinity Associated With Short Rib-polydactyly Syndrome III and Congenital Infection-like Syndrome: a Diagnostic Problem in Dysmorphic Syndromes." Journal of Medical Genetics, vol. 36, no. 6, 1999, pp. 461-6.
al-Gazali LI, Sztriha L, Dawodu A, et al. Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes. J Med Genet. 1999;36(6):461-6.
al-Gazali, L. I., Sztriha, L., Dawodu, A., Varady, E., Bakir, M., Khdir, A., & Johansen, J. (1999). Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes. Journal of Medical Genetics, 36(6), 461-6.
al-Gazali LI, et al. Complex Consanguinity Associated With Short Rib-polydactyly Syndrome III and Congenital Infection-like Syndrome: a Diagnostic Problem in Dysmorphic Syndromes. J Med Genet. 1999;36(6):461-6. PubMed PMID: 10874634.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes. AU - al-Gazali,L I, AU - Sztriha,L, AU - Dawodu,A, AU - Varady,E, AU - Bakir,M, AU - Khdir,A, AU - Johansen,J, PY - 2000/6/30/pubmed PY - 2000/6/30/medline PY - 2000/6/30/entrez SP - 461 EP - 6 JF - Journal of medical genetics JO - J Med Genet VL - 36 IS - 6 N2 - Short rib-polydactyly syndromes (SRPS) are a heterogeneous group of recessively inherited lethal skeletal dysplasias. Four types have been recognised. However, overlap in the clinical and radiological features of the four types has led to difficulties in distinguishing between them. The congenital infection-like syndrome is an autosomal recessive syndrome characterised by mental retardation, microcephaly, seizures, and intracranial calcifications. We report a complex consanguineous family of Baluchi origin in whom short rib-polydactyly type III and congenital infection-like syndrome are segregating. Four children inherited SRPS III, one inherited congenital infection-like syndrome, and one inherited both. Although the radiological features in all the children with SRPS in this report were typical of type III, there was overlap in the clinical features with the other types of SRP syndromes. Furthermore, the child who inherited both SRPS III and congenital infection-like syndrome had CNS malformations in addition to periventricular calcification. CNS malformations have been described in SRPS types II and IV but not type III. This report further highlights the overlap between the different types of SRP syndrome. Moreover, it draws attention to the importance of considering the possibility of two recessive syndromes in the same child in complex consanguineous families when features overlap two syndromes. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/10874634/Complex_consanguinity_associated_with_short_rib_polydactyly_syndrome_III_and_congenital_infection_like_syndrome:_a_diagnostic_problem_in_dysmorphic_syndromes_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=10874634 DB - PRIME DP - Unbound Medicine ER -