منابع مشابه
Familial primary pulmonary hypertension.
O insights into a disease are gained by studying the exceptional cases, the outliers. For the population with primary pulmonary hypertension (PPH), it is the patients with the familial or hereditary form that are the outliers, representing only 6 percent of the recent NHLBI PPH Registry population.' However, with recent advances in molecular biology and genetic analysis, the familial population...
متن کاملPrimary congenital pulmonary hypoplasia of a neonate.
Pulmonary hypoplasia is a rare but usually lethal disease. We report a full-term male neonate who presented with respiratory failure immediately after birth. Chest X-ray revealed a small lung volume despite advanced ventilator support. Respiratory failure persisted and this baby died at 40.5 hours of age. The autopsy showed a lung-to-birth weight ratio of 0.69% and a radial alveoli count of 2.9...
متن کاملFamilial congenital adrenal hypoplasia.
Adrenal hypoplasia is an invariable finding in infants with anencephaly. Hypoplastic adrenal glands have been described in infancy associated with congenital hypoplasia of the pituitary gland (Mosier, 1956). S;kl (1948) was probably the first author to describe congenital adrenal hypoplasia unassociated with other congenital abnormalities, though he mentions some similar cases described by earl...
متن کاملFamilial congenital adrenal hypoplasia.
Congenital adrenal hypoplasia was first described by Sikl (1948). Other reports appeared, and Mitchell and Rhaney (1959) recorded the first occurrence in a male sibship and suggested a familial basis. Boyd and MacDonald (1960) reported the necropsy findings in another pair of brothers who died in the neonatal period. The following report presents two further pairs of brothers born in Scotland w...
متن کاملPulmonary Agenesis and Hypoplasia.
In recent years the more frequent use of x-rays has revealed various congenital abnormalities of the lungs which had formerly passed undetected during life, since the clinical signs and symptoms may be minimal. An attempt is made here to elucidate the different pictures which may be seen in varying degrees of underdevelopment of the lungs. For clarity of description the following nomenclature i...
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ژورنال
عنوان ژورنال: European Journal of Pediatrics
سال: 1995
ISSN: 0340-6199,1432-1076
DOI: 10.1007/bf01957378