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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
PubMed1990

New findings in a patient with Dubowitz syndrome: velopharyngeal insufficiency and hypoparathyroidism.

We report on a boy with Dubowitz syndrome and hypoparathyroidism from which he recovered, only to redevelop it at 6 years. He also had a submucous cleft palate and cineradiographic studies showed velopharyngeal insufficiency. Although a submucous cleft palate is a well-known manifestation of Dubowitz syndrome, velopharyngeal insufficiency has not been previously described.

Abnormalities, Multiple↗
PubMed1990

The enigma of stress fractures in the pediatric age: clarification or confusion through the new imaging modalities.

Cortical thickening and/or periosteal reaction in long bones of children and adolescents continue to present a diagnostic difficulty for the pediatric radiologist. A history of physical activity points to the possibility of stress fracture, nevertheless bone malignancy or chronic inflammatory changes have to be excluded. The MRI findings in recent cases of stress fractures were confusing. An extensive metadiaphyseal abnormal signal from the medullary cavity was observed. Only the meticulous correlation between the various imaging modalities established the correct diagnosis. Stress fractures can occur in a normal bone that is subjected to repeated trauma, with the strain being less than that which causes an acute fracture. Localized pain is the presenting symptom. This kind of fracture is encountered in adolescents who are often involved in competitive physical exercise. The conventional radiographic examination shows the evidence of the fracture repair rather than the fracture itself: localized periosteal reaction and endosteal thickening. A radiolucent cortical fracture-line is usually not demonstrated. The radiologic appearance can be problematic in the pediatric age and necessitates differentiation from osteomyelitis or bone malignancy. The diagnostic investigation includes multidirectional bone radiographs. Tcm99 polyphosphate bone scintigraphy and computerized tomography. Recently MRI has been added to the diagnostic armamentarium. This paper presents the experience gained in the diagnosis of pediatric stress fractures which were investigated and followed up by MRI. It was found that this modality did not contribute to the establishment of the final diagnosis of stress fracture.

Adolescent↗
PubMed1989

Aplasia of the tibia with bifurcation of the femur and ectrodactyly: evidence for an autosomal recessive type.

Two unrelated families are presented, each with 2 affected offspring with bifid femur, absent tibia, and ectrodactyly. The healthy parents are consanguineous. It is postulated that this combination of malformations is causally heterogenous with both autosomal dominant and autosomal recessive modes of inheritance; hence, it is established as a developmental field defect.

Abnormalities, Multiple↗
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↗