Zobrazeno 1 - 7
of 7
pro vyhledávání: '"J E, Pellegrino"'
Publikováno v:
American journal of medical genetics. 99(3)
Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, d
Publikováno v:
Journal of clinical ultrasound : JCU. 28(5)
We describe a case of hepatic hemangioendothelioma that was first suspected based on prenatal sonographic findings at 19 weeks' menstrual age. At 16 weeks, the patient presented with a markedly elevated maternal serum alpha-fetoprotein level. Serial
Publikováno v:
Journal of perinatology : official journal of the California Perinatal Association. 19(1)
Publikováno v:
American journal of medical genetics. 72(1)
Joubert syndrome is an autosomal recessive disorder comprising cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The biochemical basis of the Joubert syndrome is unknown. We ascertained
Publikováno v:
American journal of medical genetics. 70(2)
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation. The radiographic findings include cr
Publikováno v:
American journal of medical genetics. 61(4)
We report on a patient with dup(17p) and monosomy (10q) resulting from a familial translocation. Manifestations typical of both syndromes were present. The overall development of this patient was better by comparison with similar reported cases of ei
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 135(25)