Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS)

Genetic Counseling

Volumn 14, Issue 3, 2003, Pages 281-288

  Rott, H D ^a,c   Krieg, P ^b   Rutschle H ^b   Kraus, C ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b St Marien/St Annastiftskrankenhaus   (Germany)

^c UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Cranial sclerosis; Facial dysmorphism; Multiple malformations; Osteopathia striata; X inactivation; X linked inheritance

Indexed keywords

ADULT; ANUS ATRESIA; ARTICLE; BONE DISEASE; CASE REPORT; CLEFT PALATE; CLINICAL FEATURE; CLUBFOOT; CONDUCTION DEAFNESS; DIAGNOSTIC IMAGING; FACE DYSMORPHIA; GROWTH RETARDATION; HEMIZYGOTE; HETEROZYGOSITY; HUMAN; HYPERTROPHIC PYLORUS STENOSIS; HYPOTHYROIDISM; KARYOTYPING; LEUKOCYTE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPATHIA STRATA WITH CRANIAL SCLEROSIS; OSTEOSCLEROSIS; SEIZURE; SKULL RADIOGRAPHY; SYMPTOM; SYNDACTYLY; THORAX MALFORMATION; X CHROMOSOMAL INHERITANCE; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; CRANIOSYNOSTOSES; DOSAGE COMPENSATION, GENETIC; FEMALE; FINGERS; FRONTAL LOBE; HEARING LOSS, CONDUCTIVE; HUMANS; MALE; MOTHERS; PEDIGREE; SCLEROSIS; SKULL; THORAX;

EID: 0141644179     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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