[Delayed bone growth as a sonographic sign in the early detection of Smith-Lemli-Opitz syndrome].
The Smith-Lemli-Opitz syndrome was first described in 1964. It is inherited as an autosomal recessive trait. Characteristic manifestations are abnormalities of the facial skull, a delayed growth, lazy feeder, zygodatly and a cryptorchism in males. The case of a girl is presented born with this syndrome likewise her sister. Diagnosis was confirmed in the 30th gestational week by means of ultrasound. A retardation of bony growth and telltale signs of this syndrome were observed. At birth length of diaphysis differed 5 weeks compared with standard.
Degenhardt
F
F
Frauenklinik, Medizinischen Hochschule Hannover im Krankenhaus Oststadt.
Mühlhaus
K
K
D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000235:genetics; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography
Verzögertes Knochenwachstum als sonographisches Zeichen zur Früherkennung eines Smith-Lemli-Opitz-Syndroms.