Tags

Type your tag names separated by a space and hit enter

Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome.
Clin Dysmorphol. 2009 Jul; 18(3):135-8.CD

Abstract

Three patients are reported, including two dizygotic twins born to consanguineous parents, presenting with a disorder characterized by growth retardation, microcephaly, distinct facial features with hypotelorism, with or without epicanthic folds, prominent lips, low set ears, tetralogy of Fallot in two cases, short first metacarpals and thumbs, and hypoplastic radius and ulna in one patient. These features overlap those previously reported in two male siblings and suggest that this association of microcephaly-facio-cardio-skeletal defects could represent a unique autosomal or X-linked recessive disorder.

Authors+Show Affiliations

Istituto CSS-Mendel, Roma and Ospedale Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Italy. dallapiccola@css-mendel.itNo affiliation info availableNo 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

19373080

Citation

Dallapiccola, Bruno, et al. "Confirmation of Microcephaly-facio-cardio-skeletal Hadziselimovic Type Syndrome." Clinical Dysmorphology, vol. 18, no. 3, 2009, pp. 135-8.
Dallapiccola B, Digilio MC, Zatterale A, et al. Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome. Clin Dysmorphol. 2009;18(3):135-8.
Dallapiccola, B., Digilio, M. C., Zatterale, A., Galeone, R., Capolino, R., & Mingarelli, R. (2009). Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome. Clinical Dysmorphology, 18(3), 135-8. https://doi.org/10.1097/MCD.0b013e32832a9e78
Dallapiccola B, et al. Confirmation of Microcephaly-facio-cardio-skeletal Hadziselimovic Type Syndrome. Clin Dysmorphol. 2009;18(3):135-8. PubMed PMID: 19373080.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Confirmation of microcephaly-facio-cardio-skeletal Hadziselimovic type syndrome. AU - Dallapiccola,Bruno, AU - Digilio,Maria Cristina, AU - Zatterale,Adriana, AU - Galeone,Rita, AU - Capolino,Rossella, AU - Mingarelli,Rita, PY - 2009/4/18/entrez PY - 2009/4/18/pubmed PY - 2009/8/19/medline SP - 135 EP - 8 JF - Clinical dysmorphology JO - Clin. Dysmorphol. VL - 18 IS - 3 N2 - Three patients are reported, including two dizygotic twins born to consanguineous parents, presenting with a disorder characterized by growth retardation, microcephaly, distinct facial features with hypotelorism, with or without epicanthic folds, prominent lips, low set ears, tetralogy of Fallot in two cases, short first metacarpals and thumbs, and hypoplastic radius and ulna in one patient. These features overlap those previously reported in two male siblings and suggest that this association of microcephaly-facio-cardio-skeletal defects could represent a unique autosomal or X-linked recessive disorder. SN - 1473-5717 UR - https://www.unboundmedicine.com/medline/citation/19373080/Confirmation_of_microcephaly_facio_cardio_skeletal_Hadziselimovic_type_syndrome_ L2 - http://dx.doi.org/10.1097/MCD.0b013e32832a9e78 DB - PRIME DP - Unbound Medicine ER -