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[Van der Woude syndrome in combination with ring chromosome 18].
Monatsschr Kinderheilkd 1988; 136(2):95-8MK

Abstract

7-month-old girl with a combination of van der Woude syndrome and ring chromosome 18 showed the following malformations: medial palate cleft, fistulas of the lower lips, hypertelorism, epicanthus, antimongoloid position of the eyelids, a small hymenal appendix, plantar placing of the third toe, atrial septum defect, stenosis of the auditory canal. The combination of fistulas of the lower lip and cleft lip or palate already established the diagnosis of Van der Woude Syndrome. Because of the additional malformations observed a chromosome analysis was performed which demonstrated a ring chromosome 18. The phenotypic features of ring-chromosome 18, a 18p-/18q- syndrome, vary according to the extend of deletion of the short or long arm. However, all patients show craniofacial dysmorphism, intellectual and developmental retardation, defective hearing, speech disorder, and more than 50% have stenosis or atresia of the auditory canal.

Authors+Show Affiliations

Universitäts-Kinderklinik Frankfurt.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

3367915

Citation

Kalker, U, et al. "[Van Der Woude Syndrome in Combination With Ring Chromosome 18]." Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde, vol. 136, no. 2, 1988, pp. 95-8.
Kalker U, Gabriel M, Jacobi G. [Van der Woude syndrome in combination with ring chromosome 18]. Monatsschr Kinderheilkd. 1988;136(2):95-8.
Kalker, U., Gabriel, M., & Jacobi, G. (1988). [Van der Woude syndrome in combination with ring chromosome 18]. Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde, 136(2), pp. 95-8.
Kalker U, Gabriel M, Jacobi G. [Van Der Woude Syndrome in Combination With Ring Chromosome 18]. Monatsschr Kinderheilkd. 1988;136(2):95-8. PubMed PMID: 3367915.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Van der Woude syndrome in combination with ring chromosome 18]. AU - Kalker,U, AU - Gabriel,M, AU - Jacobi,G, PY - 1988/2/1/pubmed PY - 1988/2/1/medline PY - 1988/2/1/entrez SP - 95 EP - 8 JF - Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde JO - Monatsschr Kinderheilkd VL - 136 IS - 2 N2 - 7-month-old girl with a combination of van der Woude syndrome and ring chromosome 18 showed the following malformations: medial palate cleft, fistulas of the lower lips, hypertelorism, epicanthus, antimongoloid position of the eyelids, a small hymenal appendix, plantar placing of the third toe, atrial septum defect, stenosis of the auditory canal. The combination of fistulas of the lower lip and cleft lip or palate already established the diagnosis of Van der Woude Syndrome. Because of the additional malformations observed a chromosome analysis was performed which demonstrated a ring chromosome 18. The phenotypic features of ring-chromosome 18, a 18p-/18q- syndrome, vary according to the extend of deletion of the short or long arm. However, all patients show craniofacial dysmorphism, intellectual and developmental retardation, defective hearing, speech disorder, and more than 50% have stenosis or atresia of the auditory canal. SN - 0026-9298 UR - https://www.unboundmedicine.com/medline/citation/3367915/[Van_der_Woude_syndrome_in_combination_with_ring_chromosome_18]_ L2 - http://www.diseaseinfosearch.org/result/7346 DB - PRIME DP - Unbound Medicine ER -