Tetra-amelia and lung hypo/aplasia syndrome: new case report and review.
Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra-amelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal (46,XX) and premature centromere separation was excluded. No mutation was identified upon molecular analysis of WNT3, HS6ST1, and HS6ST3. We reviewed the literature and the differential diagnosis to clarify the clinical delineation of conditions associated with tetra-amelia. The present report describes the sixth family with this pattern of malformations and reinforces the evidence that the "tetra-amelia and lung hypo/aplasia syndrome" is a distinct autosomal recessive condition, with no identified gene thus far.
Serviço de Genética Médica, Centro Hospitalar de Coimbra, Coimbra, Portugal. sbsousa@hpc.chc.min-saude.pt
Sérgio B
SB
Sousa
Raquel
R
Pina
Lina
L
Ramos
Naigel
N
Pereira
Martin
M
Krahn
Wiktor
W
Borozdin
Jürgen
J
Kohlhase
Marta
M
Amorim
Katia
K
Gonnet
Nicolas
N
Lévy
Isabel M
IM
Carreira
Ana Bela
AB
Couceiro
Jorge M
JM
Saraiva
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004480:Ectromelia / Q000235:genetics*; D005260:Female; D005333:Fetus / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D008168:Lung / Q000002:abnormalities*; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome