Tags

Type your tag names separated by a space and hit enter

[Fronto-nasal dysplasia (apropos of 4 cases)].
J Genet Hum. 1983 Dec; 31 Suppl 5:351-65.JG

Abstract

Four cases of frontonasal dysplasia are reported in two boys and two girls. Clinical diagnosis was made at 16 months in one case and sooner in 3 cases (1 month-3 1/2 months) in presence of following features: severe hypertelorism (4/4), paramedian lip and palate cleft (3/4), nose root broadering (4/4), bifid or cleft nose tip (3/4), window's peak (3/4) mediofrontal swelling (4/4), cranium bifidum occultum (2/4). Many abnormalities were associated: conduction deafness (1/4), goldenhar syndrome (1/4), GH deficiency (1/4), etc... In three cases when cerebral investigation was possible, it was pointed out: corpus callosum agenesis (3/3), hydrocephalus (3/3), Dandy-Walker cyst (2/3). Caryotype is normal in whole cases which are sporadic. Two children are dead. The two alive remaining have severe mental impairment.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

6674411

Citation

Fontaine, G, et al. "[Fronto-nasal Dysplasia (apropos of 4 Cases)]." Journal De Genetique Humaine, vol. 31 Suppl 5, 1983, pp. 351-65.
Fontaine G, Walbaum R, Poupard B, et al. [Fronto-nasal dysplasia (apropos of 4 cases)]. J Genet Hum. 1983;31 Suppl 5:351-65.
Fontaine, G., Walbaum, R., Poupard, B., Bonte, C., Dhellemmes, P., Maquet, E., Ythier, H., & Stevenard, C. (1983). [Fronto-nasal dysplasia (apropos of 4 cases)]. Journal De Genetique Humaine, 31 Suppl 5, 351-65.
Fontaine G, et al. [Fronto-nasal Dysplasia (apropos of 4 Cases)]. J Genet Hum. 1983;31 Suppl 5:351-65. PubMed PMID: 6674411.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Fronto-nasal dysplasia (apropos of 4 cases)]. AU - Fontaine,G, AU - Walbaum,R, AU - Poupard,B, AU - Bonte,C, AU - Dhellemmes,P, AU - Maquet,E, AU - Ythier,H, AU - Stevenard,C, PY - 1983/12/1/pubmed PY - 1983/12/1/medline PY - 1983/12/1/entrez SP - 351 EP - 65 JF - Journal de genetique humaine JO - J Genet Hum VL - 31 Suppl 5 N2 - Four cases of frontonasal dysplasia are reported in two boys and two girls. Clinical diagnosis was made at 16 months in one case and sooner in 3 cases (1 month-3 1/2 months) in presence of following features: severe hypertelorism (4/4), paramedian lip and palate cleft (3/4), nose root broadering (4/4), bifid or cleft nose tip (3/4), window's peak (3/4) mediofrontal swelling (4/4), cranium bifidum occultum (2/4). Many abnormalities were associated: conduction deafness (1/4), goldenhar syndrome (1/4), GH deficiency (1/4), etc... In three cases when cerebral investigation was possible, it was pointed out: corpus callosum agenesis (3/3), hydrocephalus (3/3), Dandy-Walker cyst (2/3). Caryotype is normal in whole cases which are sporadic. Two children are dead. The two alive remaining have severe mental impairment. SN - 0021-7743 UR - https://www.unboundmedicine.com/medline/citation/6674411/[Fronto_nasal_dysplasia__apropos_of_4_cases_]_ DB - PRIME DP - Unbound Medicine ER -