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Biomedical subjects

G F Davi

Publications and source records attributed to G F Davi.

11 recordsLinked to original sources
PubMed1984

Interstitial deletion of chromosome 1 (q23-q25). Report of a case.

We describe a 3-month-old female with a de novo interstitial deletion of the long arm of chromosome 1 (1q23-25). Clinical features are failure to thrive, psychomotor retardation, cleft lip and palate, short metacarpals, metatarsals and fingers and a severe congenital heart disease. The four previously reported patients with the same deletion share with ours the distinctive pattern of anomalies of the face and limbs; therefore, it seems now possible to delineate a proximal 1 q deletion syndrome.

Abnormalities, Multiple↗
PubMed1983

Kniest disease with Pierre Robin syndrome and hydrocephalus.

A 3-month-old male infant with clinical and radiological features of Kniest disease is reported. Additional findings were severe Pierre Robin syndrome and external hydrocephalus. The patient was retarded in mental and motor development. He died at 4 months of age from the complications of tracheostomy. The parents were both normal clinically and radiologically, thus the disease in the child was presumably due to a new mutation. The reported familial cases of Kniest disease suggest autosomal dominant inheritance. The differential diagnosis is discussed in detail.

Diagnosis, Differential↗
PubMed1982

Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome.

An 8-year-old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination showed the hair to be twisted at irregular intervals on its long axis, as seen in pili torti. Her mother has the same features; as a child, she had identical hair and is now bald. Both mother and daughter display signs and symptoms of Rapp-Hodgkin's ectodermal dysplasia. The autosomal dominant inheritance of the disease is further supported by the findings in this family.

Adult↗
PubMed1979

Radiological features in trisomy 8.

Radiological study may prompt the correct diagnosis of Trisomy 8 mosaicism when the clinical features are mild and could be overlook. Skeletal features characteristic of Trisomy 8 are found in the skull, elbows, spine, pelvis, hands and feet.

Bone and Bones↗
PubMed1979

The 49XXXXX syndrome. Report of a case with 48XXXX/49XXXXX mosaicism.

A patient with 48XXXX/49XXXXX mosaicism is presented. Clinical findings include severe growth and developmental retardation, hypertelorism, mongoloid slant of the palpebral fissures, clinodactyly of the fifth fingers, retarded bone age and radio-ulnar synostosis. The findings are similar to those of the cases with a penta-X chromosome complement already described, and are also similar to the signs of the more common 49XXXXY syndrome of males. In both instances the dysmorphic features are less impressive than the mental retardation and the skeletal malformations. This report contributes to a better delineation of the 49XXXXX syndrome. The possible mechanisms of the chromosomal aberration are discussed.

Abnormalities, Multiple↗