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New syndrome in three affected siblings.
Pediatrics. 1981 Aug; 68(2):235-7.Ped

Abstract

A previously undescribed syndrome is reported. Major features include: (1) poorly mineralized calvarium, (2) dysmorphic facies (cleft lip and palate, micrognathia, upturned nares, apparent ocular hypertelorism), and (3) extracranial and musculoskeletal anomalies (absence of cervical vertebrae and clavicles, talipes equilnorvarus, and soft tissue syndactyly). Autosomal recessive inheritance is the most likely mode of transmission. Prenatal diagnosis via ultrasonography wa successful in two fetuses at risk.

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Publisher Full Text

Authors

Crane JP
No affiliation info available
Heise RL
No affiliation info available

MeSH

Abnormalities, MultipleCleft LipCleft PalateClubfootFaceFemaleHumansInfant, NewbornMaleMicrognathismPrenatal DiagnosisSkullSonicationSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7267231

Citation

Crane, J P., and R L. Heise. "New Syndrome in Three Affected Siblings." Pediatrics, vol. 68, no. 2, 1981, pp. 235-7.
Crane JP, Heise RL. New syndrome in three affected siblings. Pediatrics. 1981;68(2):235-7.
Crane, J. P., & Heise, R. L. (1981). New syndrome in three affected siblings. Pediatrics, 68(2), 235-7.
Crane JP, Heise RL. New Syndrome in Three Affected Siblings. Pediatrics. 1981;68(2):235-7. PubMed PMID: 7267231.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New syndrome in three affected siblings. AU - Crane,J P, AU - Heise,R L, PY - 1981/8/1/pubmed PY - 1981/8/1/medline PY - 1981/8/1/entrez SP - 235 EP - 7 JF - Pediatrics JO - Pediatrics VL - 68 IS - 2 N2 - A previously undescribed syndrome is reported. Major features include: (1) poorly mineralized calvarium, (2) dysmorphic facies (cleft lip and palate, micrognathia, upturned nares, apparent ocular hypertelorism), and (3) extracranial and musculoskeletal anomalies (absence of cervical vertebrae and clavicles, talipes equilnorvarus, and soft tissue syndactyly). Autosomal recessive inheritance is the most likely mode of transmission. Prenatal diagnosis via ultrasonography wa successful in two fetuses at risk. SN - 0031-4005 UR - https://www.unboundmedicine.com/medline/citation/7267231/New_syndrome_in_three_affected_siblings_ L2 - http://pediatrics.aappublications.org/cgi/pmidlookup?view=long&pmid=7267231 DB - PRIME DP - Unbound Medicine ER -