Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes.
We report on an Italian boy with the Meier-Gorlin syndrome (ear-patella-short stature syndrome). This rare autosomal recessive disorder comprises the triad of microtia, absent patellae, and growth retardation with prenatal onset. The patient had also an acute torsion of his left spermatic cord, a condition related to a congenital defect of the tunica vaginalis. Because this syndrome had been suggested as the human equivalent of the short ear mouse [Lacombe et al., 1994: Ann. Genet. 37:184-191], a mutation analysis of the BMP5 gene was performed and found normal. The LMX1B and the SHOX genes were also evaluated considering the absent patellae and short stature, respectively, and were found normal as well.
Cohen
Amnon
A
Department of Pediatrics, Saint-Paul Hospital, Savona, Italy. cohen.amnon@mail.sirio.it
Mulas
Roberta
R
Seri
Marco
M
Gaiero
Alberto
A
Fichera
Graziella
G
Marini
Monica
M
Baffico
Maria
M
Camera
Gianni
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D055417:Bone Morphogenetic Protein 5; D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D004392:Dwarfism / Q000150:complications / Q000235:genetics; D005317:Fetal Growth Retardation / Q000150:complications / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007558:Italy; D060850:LIM-Homeodomain Proteins; D008297:Male; D010329:Patella / Q000002:abnormalities; D018807:Polymorphism, Single-Stranded Conformational; D000074122:Short Stature Homeobox Protein; D013577:Syndrome; D014157:Transcription Factors
C525814:BMP5 protein, human; C525815:Bmp5 protein, mouse; D055417:Bone Morphogenetic Protein 5; D019485:Bone Morphogenetic Proteins; D018398:Homeodomain Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors