Copper deficiency in infants fed cow milk.
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Biomedical subjects
Publications and source records attributed to M Grunebaum.
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A rare association of triphalangeal thumbs and duplication of the big toes is described. The family pedigree confirms autosomal dominant inheritance with marked penetrance. A systematic approach to the diagnosis of this anomaly is presented. The distinction between the two types of triphalangeal thumb, true (opposable) and finger-like (non-opposable), is emphasised.
Forty-one children with transient synovitis of the hip and 10 children with Legg-Calve-Perthes disease were followed. All 41 cases of transient synovitis had a benign outcome. In this series, nine of the 10 children with Legg-Calve-Perthes disease were diagnosed upon their first roentgenographic examination. One child whose first diagnosis was transient synovitis remained symptomatic for 4 months, when he developed roentgenologic changes consistent with Perthes disease. The literature is reviewed and 455 cases of transient synovitis analyzed. Only one patient with transient synovitis developed Legg-Calve-Perthes disease after having been asymptomatic for a period of 3 months. In 17 other cases, symptoms persisted until Legg-Calve-Perthes was diagnosed. It is suggested that transient synovitis is a benign disease and that only children with protracted symptoms are at risk to develop Perthes disease.
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Spontaneous perforation of the small intestine in the newborn is rare. In most cases the etiology is unknown. Three cases of perforation in preterm newborn infants are described. The clinical diagnosis was necrotizing enterocolitis (NEC), and an urgent laparotomy was performed. The histologic examination was compatible with the diagnosis of a congenital defect of the intestinal musculature. All three infants survived.
A newborn infant with postaxial polydactyly of the hands, preaxial polydactyly of the feet, syndactyly and craniofacial dysmorphism (Greig's Syndrome) is reported. The radiographic manifestations in the neonatal period are described. The advanced bone age, the unusual shape of the iliac bones and the supernumerary prehallux toe are new radiological findings in Greig's Syndrome at this age. The diffuse distribution of skeletal anomalies suggests a more complex problem of the intrauterine process of ossification.
In view of the role of immunoglobulin A (IgA) in the local host defenses of the gut and biliary tract, and the association of IgA deficiency with various intestinal disorders, an ultrasonographic study was performed to determine the prevalence of gallstones in selective IgA deficiency. Eight of 13 children (three girls and five boys) with selective IgA deficiency had abnormal biliary sonograms. Four had cholelithiasis, and four had biliary sludge only. IgA deficiency may predispose to gallbladder infection, and thus to the development of gallstones. Decreased bile acid pool due to intestinal losses, and biliary stasis due to reduced hormonal gallbladder stimulation may also play a role in some cases, but further studies are needed. This association adds a new gastrointestinal abnormality to those known to be associated with selective IgA deficiency.
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Over a seven year period 23 neonates with spontaneous pneumothorax and/or pneumomediastinum (SPP) were diagnosed in 24,739 live birth infants (0.09 percent). Of these, eight (35 percent) had renal anomalies. Three showed severe renal dysfunction and typical Potter facies and died within 34 hours. Their lungs were shown to be hypoplastic with a reduced lung weight: body weight ratio or a low radial alveolar count. One patient had left hypoplastic and right polycystic kidneys. Four patients with obstructive uropathies did not show the typical facies, and SPP was the only sign leading to their early diagnosis and therapy. We conclude that nephrologic evaluation is indicated in newborns with unexplained SPP and recommend abdominal ultrasound and if indicated renal scan and/or intravenous pyelography as part of the initial evaluation.
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Because of their spontaneous regression, capillary and cavernous hemangiomas of infants usually do not require treatment. However, when they interfere because of their location with important functions of the body or even threaten life, treatment becomes mandatory. This is the case in most patients with congenital subglottic hemangiomas. In the past various methods of treatment have been used. All of them have disadvantages, and some are hazardous. Most cases (74.2%) required protracted tracheostomy. Mortality rate is still high (23.8%). We report herewith 5 infants with subglottic hemangiomas successfully treated with prednisone. No remarkable side-effects were observed, besides transient moonfacing. Similar good results were previously reported in 9 cases by several authors. Prednisone therapy if instituted early may reduce the need of tracheostomy and bring about complete recovery in this sometimes severe condition. Proper dosage and sufficient length of treatment are absolutely essential for such successful outcome.
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3 infants wih the acute neuronopathic form of Niemann-Pick disease had prominent gastrointestinal manifestations. These included chronic diarrhea, malnutrition, failure to thrive, radiologic intestinal abnormalities, xylose malabsorption, abnormal liver function, and infiltration of the liver, lamina propria and autonomic ganglia by lipid-laden cells. Possible pathogenetic mechanisms are discussed, and it is suggested that gastrointestinal disturbances play a larger part in the clinical manifestations of Niemann-Pick disease than is usually appreciated.
The age of occurrence of the first conscious ejaculation was registered in 263 boys belonging to two categories: (1) 128 boys (70 normal controls, 22 boys with unilateral cryptorchidism with normal puberty, and 36 boys with delayed puberty) who had been under regular follow-up throughout puberty. All underwent a complete physical examination at intervals of 3 to 6 months, and in most a wrist X-ray was made within three months of the first ejaculation. (2) A group of 135 boys examined and questioned at their school served as additional controls. Eighty of these reported ejaculations. Despite a wide range in the chronological age at occurrence of the first conscious ejaculation, the mean bone age in all groups, including that with delayed puberty, was 13 1/2 +/- 1/2 years (SD), with a range between 12 1/2-15 1/2 years. There was no correlation between the age at first ejaculation and testicular volume, pubic hair or penis length. It is proposed that the age at the first conscious ejaculation be used as an index of maturation in male puberty.
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