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G F Ronconi

Publications and source records attributed to G F Ronconi.

23 records · Page 2Linked to original sources
PubMedDate not supplied

[Congenital malformations in the newborn infant of mothers with gestational diabetes and mothers with insulin-dependent diabetes].

Infants of diabetic mothers have an increased morbidity and mortality in the perinatal period. Nevertheless, there are differences in opinions about the exact incidence of malformations, metabolic disturbances, fetal macrosomia and respiratory distress syndrome. This study was designed to investigate the incidence of embriofetopathy in those of mothers with gestational diabetes. The incidence was highest in the group of mothers on insulin at the time of conception. Major fetal malformations of the cardiovascular and central nervous system were over-represented.

Adult↗
PubMedDate not supplied

[Two cases of familial thyroxine-binding globulin (TBG) deficit identified by the screening of neonatal hypothyroidism (author's transl)].

Thyroxine-binding globulin deficiency is a well-known condition transmitted as a X-linked dominant trait or as autosomal dominant trait. This condition is benign and hypothyroidism is never associated. Values of T4 in the serum are abnormally low, TSH values are normal, RT3U values are high. TBG deficiency probably are much more diffuse than we believed in past. Therefore it's possible to detect this deficit through screening programs for neonatal hypothyroidism. In this paper we describe two cases of TBG deficit. Thyroid function and TBG levels in babies and in their families are studied. In our sample of three years the incidence is I:3170 newborns, The presumable inheritance pattern are both X-linked dominant and autosomal dominant. Neither in affected babies nor in their relatives thyroid function is abnormal.

Female↗
PubMedDate not supplied

[A case of Pfeiffer syndrome with psychomotor delay. Part I - Physical and X-ray examination and psychomotor assessment. Part II - Notes about surgical treatment of Pfeiffer syndrome and other craniofacial stenosis types].

Part I - A case of acrocephalosyndactyly (ACS) type V, or Pfeiffer Syndrome, is described in a 2-year-old male child. This syndrome is characterized by acrocephaly, partial syndactyly of toes, broad thumbs and great toes, with normal intelligence. Our patient, instead, shows a middle degree of psychomotor delay. The family pedigree confirms an autosomal dominant inheritance mode. Diagnostic separation of the Pfeiffer Syndrome from the other craniostenosis and acrocephalosyndactyly syndromes is discussed. Neurosurgical assessment is mandatory in order to avoid cerebral and ocular damage due to chronically increased intracranial pressure. Part II - The Authors present some concepts on the surgical treatment of the craniofacial stenosis. A great importance is given to an early diagnosis and surgical treatment: to make this possible it is necessary to have some Hospital Centers really very specialized. The treatment of a child affected by Syndrome of Pfeiffer is described, giving more evidence to the operative technique and to its reasons.

Acrocephalosyndactylia↗
PubMedDate not supplied

[Two cases of amniotic band disruption complex (author's transl)].

Two cases of amniotic band disruption complex are described: in both newborns severe craniofacial defects are associated with limb defects. The quality of survival may be satisfactory when surgical correction of limbs and craniofacial defects is possible, like in the newborn less severely affected. Recurrence risk is very low, with respect to the sporadic nature of this disorder. A more accurate diagnosis may be done through placenta and fetal sac studies.

Amnion↗