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[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

Fontaine G
No affiliation info available
Walbaum R
No affiliation info available
Poupard B
No affiliation info available
Bonte C
No affiliation info available
Dhellemmes P
No affiliation info available
Maquet E
No affiliation info available
Ythier H
No affiliation info available
Stevenard C
No affiliation info available

MeSH

Abnormalities, MultipleChildChild, PreschoolCleft PalateFemaleForeheadHumansJaw AbnormalitiesLipMaleNoseSyndrome

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 -