The facio-digito-genital syndrome (Aarskog syndrome): a further delineation of the distinct radiological findings.
The Aarskog syndrome is a true MCA syndrome with X-linked recessive inheritance. The clinical phenotype, and its evolution with age, have been well documented in the past. Few data are reported on the radiological skeletal changes and findings. The purpose of the present paper is to describe the clinical and radiological findings in two brothers with Aarskog syndrome and to further delineate the radiological characteristics of this condition. The main findings are asynchronic and delayed bone age, shortened long tubular bones with wide metaphyses, brachyphalangy, hypoplasia of the middle phalanges of the fifth fingers, short and broad first metacarpals and metatarsals and pelvic hypoplasia.
Lizcano-Gil
L A
LA
Maestría en Gentica Humana, Universidad de Guadalajara, Jalisco, Mexico.
Garcia-Cruz
D
D
Cantu
J M
JM
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000365:Age Determination by Skeleton; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002675:Child, Preschool; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005808:Genes, Recessive / Q000235:genetics; D005837:Genitalia, Male / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D014960:X Chromosome