title: Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
abstract: Neu-Laxova Syndrome (NLS) is a severe disorder with intrauterine growth retardation, edema, and characteristic face (including microcephaly with receding forehead, protuberant eyes, a flattened nose, deformed ears, cleft palate, and micrognathia). Ichthyosis is often present. Limb anomalies include hypoplastic fingers and syndactyly of fingers and toes. Patients are usually stillborn or die shortly after birth. We report five unrelated patients--four with atypical NLS and one with typical NLS. All five patients were stillbirths. Clinically, the atypical NLS patients showed a large skull; rhizo-, meso-, and acromelia; and hypoplasia of the metacarpals and phalanges. The feet were similarly affected. Radiographically, the atypical patients showed interpediculate narrowing and hypoplastic vertebral bodies. The long bones were stick-like, showing diaphyseal widening that spared the metaphyses and was more pronounced in the lower extremities. The ilia had a half-moon configuration with widening of the sacrosciatic notches. The ischia were vertical and the pubic bone was absent. The typical NLS patient showed microcephaly, normal vertebral body, and long bone ossification, but a pelvic configuration similar to that of the atypical NLS patients. The common and distinguishing clinical and radiographic features are reviewed. Scott et al. [1981: Am J Med Genet 9:165-175] described two patients with NLS with radiographic and clinical findings similar to patients 1-4 reported here. Patients 1-4 of this report lack the typical findings of NLS and likely represent a distinct lethal skeletal dysplasia.
authors.affiliation: International Skeletal Dysplasia Registry, Cedars Sinai Medical Center, Los Angeles, California 90048, USA.
authors.forename: Alison M
authors.initials: AM
authors.lastname: Elliott
authors.forename: Marie
authors.initials: M
authors.lastname: Gonzales
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Hoeffel
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Pierre
authors.initials: P
authors.lastname: Maroteaux
authors.forename: Ferechte
authors.initials: F
authors.lastname: Encha-Razavi
authors.forename: Nicole
authors.initials: N
authors.lastname: Joye
authors.forename: Colette
authors.initials: C
authors.lastname: Berchel
authors.forename: Christian
authors.initials: C
authors.lastname: Fliegel
authors.forename: David J
authors.initials: DJ
authors.lastname: Aughton
authors.forename: Kelly
authors.initials: K
authors.lastname: Beaudry-Rodgers
authors.forename: Farnez
authors.initials: F
authors.lastname: Hasteh
authors.forename: Andreas G
authors.initials: AG
authors.lastname: Nerlich
authors.forename: William R
authors.initials: WR
authors.lastname: Wilcox
authors.forename: David L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: Ralph S
authors.initials: RS
authors.lastname: Lachman
authors.forename: Peter
authors.initials: P
authors.lastname: Freisinger
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001848:Bone Diseases, Developmental / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000473:pathology*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005313:Fetal Death; D005317:Fetal Growth Retardation / Q000473:pathology*; D006801:Humans; D008297:Male; D013577:Syndrome