[Primary pancreatic hydatid cyst and primordial familial dwarfism].
A 10 years and 7 months old male, was studied for a pathologic, primordial hipogrowing disease, probably due to a recessive and autosomic transmission, because he has got a sister with the same illness, and he was diagnostified of a pancreatic cyst, whind was found in an echographical exploration and established by scanner as intraglandular cyst. There are no others cysts found detected in a complete body-check. The chirurgic findings was a solitary hydatidic intrapancreatic cyst whid was extirpated. The patient's and sister's facial characteristics (big nose, long and thin neck, large forehead), the normal hormonal study in this case, the observation of small bone defects (first finger of the foot thicker than usual, cone epifisis in hands), a normal intelligence and the not accordance between them and the usual in literature described kind, suggest to be a different form the congenital autosomic, recessive dwarfism, not according to the usual one.
Díaz Vázquez
C
C
Sección de Genética Pediátrica, Hospital Universitario Nuestra Señora de Covadonga.
Alonso Villa
M J
MJ
Solís Sánchez
G
G
Barreiro Daviña
J
J
Cano Garcinuño
A
A
Martínez Almoyna
C
C
Fernández Toral
J
J
D002648:Child; D004392:Dwarfism / Q000235:genetics*; D004443:Echinococcosis / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D010181:Pancreatic Cyst / Q000235:genetics*
Quiste hidatídico pancreático primitivo y enanismo primordial familiar.