The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib.

Tolmie, J L; Mortimer, G; Doyle, D; McKenzie, R; McLaurin, J; Neilson, J P

Tolmie, J L; Mortimer, G; Doyle, D; McKenzie, R; McLaurin, J; Neilson, J P.

Am J Med Genet ; 27(1): 175-82, 1987 May.

Article in En | MEDLINE | ID: mdl-3300330

ABSTRACT

ABSTRACT

We report on affected sisters with the Neu-Laxova syndrome. Prenatal diagnosis of the condition was achieved by serial ultrasound examinations which demonstrated abnormal fetal growth in the second affected fetus before 24 weeks gestation.

Subject(s)

Abnormalities, Multiple/genetics; Abnormalities, Multiple/diagnosis; Brain/abnormalities; Consanguinity; Face/abnormalities; Female; Fetal Growth Retardation/genetics; Genes, Recessive; Humans; Ichthyosis/genetics; Infant, Newborn; Limb Deformities, Congenital; Pedigree; Pregnancy; Prenatal Diagnosis; Syndrome; Ultrasonography

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Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple Type of study: Diagnostic_studies Limits: Female / Humans / Newborn / Pregnancy Language: En Journal: Am J Med Genet Year: 1987 Type: Article

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