Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.
Stuve-Wiedemann syndrome (SWS) is an autosomal recessively inherited disorder that is usually associated with high mortality in the neonatal period. Eleven cases have been published with prolonged survival, the oldest being 16 years. This phenotype is characterized by progressive skeletal anomalies including short stature, severe spinal deformities, bowing of the long bones, contractures and spontaneous fractures, and by neurological features that resemble dysautonomia. Here we report on the natural history of a Portuguese girl from birth till 12 years. The diagnosis was molecularly confirmed by the detection of a homozygous 4 bp deletion (167_170 del TAAC) in exon 3 of LIFR. We compare the findings in this patient to other patients with prolonged survival from the literature.
Gaspar
Isabel Mendes
IM
Department of Medical Genetics, Egas Moniz Hospital, Lisboa, Portugal. isabelgaspar@netsapo.pt
Saldanha
Tiago
T
Cabral
Pedro
P
Vilhena
M Manuel
MM
Tuna
Madalena
M
Costa
Cristina
C
Dagoneau
Nathalie
N
Daire
Valerie Cormier
VC
Hennekam
Raoul C M
RC
D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000150:complications / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004402:Dysautonomia, Familial / Q000150:complications / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit / Q000235:genetics; D011859:Radiography; D017384:Sequence Deletion; D013577:Syndrome
C507840:LIFR protein, human; D053680:Leukemia Inhibitory Factor Receptor alpha Subunit