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.
Sousa
Sérgio B
SB
Serviço de Genética Médica, Centro Hospitalar de Coimbra, Coimbra, Portugal. sbsousa@hpc.chc.min-saude.pt
Pina
Raquel
R
Ramos
Lina
L
Pereira
Naigel
N
Krahn
Martin
M
Borozdin
Wiktor
W
Kohlhase
Jürgen
J
Amorim
Marta
M
Gonnet
Katia
K
Lévy
Nicolas
N
Carreira
Isabel M
IM
Couceiro
Ana Bela
AB
Saraiva
Jorge M
JM
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