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Biomedical subjects

M Grunebaum

Publications and source records attributed to M Grunebaum.

At least 37 records · Page 2Linked to original sources
PubMed1988

The sonographic signs of the peritoneal pseudocyst obstructing the ventriculo-peritoneal shunt in children.

The installation of the ventriculo-peritoneal shunt (VPS) is on the rise in the pediatric age. Its obstruction is a major cause for further deterioration of the already present hydrocephalus. Distal VPS obstruction may be due to a pseudocyst, an infected pseudocyst or an abscess-formation within the peritoneal cavity. These pathologies are identified through an abdominal radiograph and ultrasonography. The sonographic signs are described and its differential diagnosis is discussed in relation to 6 diagnosed cases. One VPS was obstructed by Ascaris lumbricoides clinging to its tip within an abscess.

Abscess↗
PubMed1988

Osteopathia striata, cranial sclerosis with cleft palate and facial nerve palsy.

Osteopathia striata (OS) is a rare bone dysplasia characterized by longitudinal sclerotic striations of the long bones. It is of no clinical importance, but OS associated with cranial sclerosis represents a separate entity with a high incidence of palatine malformations and deafness. Only 19 cases of this entity have been reported in the literature. One patient of this series also had facial nerve paralysis. This paper presents a second case of OS, cranial sclerosis, palatine pathology and recurrent facial nerve paralysis. This incidence of 2/20 (10%) does not seem to be coincidental but raises the possibility that facial nerve palsy is one of the clinical manifestations of this specific bone abnormality.

Bone Diseases↗
PubMed1988

Complete absence of external genitalia in limb-body wall complex: two cases.

Two neonates with limb-body wall complex (LBWC) and complete absence of the external genitalia are presented. Our patients are the sixth and seventh cases of complete absence of the external genitalia recorded in English publications and the first two cases associated with LBWC. The incidence of complete absence of the external genitalia in our newborn population during a period of 12 years (1975 to 1986) was one case per 13 420 births.

Abnormalities, Multiple↗
PubMed1987

Autosomal dominant cerebro-costo-mandibular syndrome: ultrasonographic and clinical findings.

We describe two patients, a father and his daughter, with the cerebro-costo-mandibular syndrome. New manifestations not previously described include microstomia, long philtrum, posterior cervical skin fold, short internipple distance, and depressed sacral region. The presence of hydrocephaly in the proposita and spina bifida in the father may be other manifestations of neuraxial involvement in this syndrome. The first intrauterine ultrasonographic documentation of this syndrome showed polyhydramnios and, especially, the very unusual shape of the ribs, which were short and defective. Most characteristics of the pedigree point to autosomal dominant inheritance. The great variability of inheritance and expressivity of the very few documented familial cases described in the literature, together with the great frequency of sporadic cases, indicates genetic heterogeneity of this syndrome.

Abnormalities, Multiple↗
PubMed1987

Stress fractures: a diagnostic problem.

Three cases of stress fracture, in which diagnosis was aided by sequential radiographs and radionuclide scanning are presented; and a procedure for their management, which attempts to eliminate the need for invasive investigations, is suggested.

Adolescent↗
PubMed1987

Fractures in children who have Gaucher disease.

A series of twenty-three pathological fractures in nine children who had Gaucher disease was reviewed. Infiltration of the medullary space by Gaucher cells, erosion of bone, osteonecrosis in the area of the fracture, and disuse osteoporosis were the main etiological factors. Bone scans indicated that the osteonecrosis was due to osseous ischemia that occurred two to twelve months before the pathological fracture. Fracture-healing was prolonged, taking as long as two years for completion in some patients. Inadequate periods of immobilization and early weight-bearing led to malunion.

Adolescent↗
PubMed1986

Type II syndactyly or synpolydactyly.

A new family with syndactyly type II or synpolydactyly is described with 16 affected members in six generations. No other major skeletal or extraskeletal malformations were present, but the association with minor local anomalies may be a common feature. Various metacarpal or metatarsal abnormalities may be part of this type of syndactyly. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance and the frequent occurrence of non-manifesting heterozygotes resulting in 'skipped generations'.

Adult↗
PubMed1985

The incidence of isolated craniosynostosis in the newborn infant.

The incidence of isolated, nonsyndromatic craniosynostosis in a newborn population was found to be 0.6 per 1,000 live births. The distribution by anatomic types was metopic suture, 50%; sagittal suture, 28%; coronal suture, 16.5%; and lambdoid suture, 5.5%. We found a higher incidence of trigonocephaly than has been reported previously.

Craniosynostoses↗
PubMed1985

Familial opposable triphalangeal thumbs associated with duplication of the big toes.

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.

Adult↗
PubMed1985

Legg-Calve-Perthes disease following transient synovitis. How often?

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.

Child↗
PubMed1984

Neonatal intestinal perforation caused by congenital defects of the intestinal musculature.

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.

Female↗