We describe 2 patients with a partial DiGeorge syndrome (facial dysmorphism, hypoparathyroidism, renal agenesis, mental retardation) and a rearrangement of chromosome 10p. The first patient carries a complex chromosomal rearrangement, with a reciprocal insertional translocation between the short arm of chromosome 10 and the long arm of chromosome 8, with karyotype 46, XY ins(8;10) (8pter 8q13::10p15-->10p14::8q24.1-->8qter) ins(10:8) (10pter--> 10p15::8q24.1-->8q13::10p14-->10qter). The karyotype of the second patient shows a terminal deletion of the short arm of chromosome 10. In both patients, the breakpoints on chromosome 10p reside outside the previously determined DiGeorge critical region II (DGCRII). This is in agreement with previous reports of patients with a terminal deletion of 10p with breakpoints distal to the DGCRII and renal malformations/hypoparathyroidism, and thus adds to evidence that these features may be caused by haploinsufficiency of one or more genes distal to the DGCRII.
A single case of growing skull-fracture and intracranial porencephalic cyst caused by vacuum extraction is on record (1). We report an infant who developed a large extracranial pseudomeningocele after tedious ventouse extraction.The six-month-old male infant was first examined at our outpatient clinic because of a large rapidlygrowing cranial bulge ( Fig. 1). He was born in another hospital by a nulliparous mother after an uneventful pregnancy. Labour had been induced electively, at 39 weeks of gestation. Second-stage delay (90 min) due to persistent occiput-posterior position prompted the consulted obstetrician to perform a vacuum extraction. The procedure was tedious and complicated by multiple episodes of cup detachment. At birth, the neonate (birthweight 4 150 g; head circumference 36 cm) was very lethargic, but cried immediately. Apgar scores are unknown. A large left parieto-occipital cephalhaematoma was noticed. Be-Acta Paediatr Scand 79 Short communication 233Fig. 2. CT-scan of the brain. Adapted oblique coronary incidence (see text).Growing skull-fracture is a well-known, albeit uncommon complication of calvarian fracture with underlying dural tear in infancy and very early childhood (2). In almost all reported cases the cause of injury was a fall from a height or a car accident (2). Growing skull fracture related to forceps delivery has occasionally been reported (3)(4). We report an infant with a large-sized rapidly progressive extra-cranial leptomeningeal cyst following difficult ventouse delivery. When incorrectly performed this procedure may inflict severe mechanical trauma on the baby. The paediatrician must be familiar with this rare complication because early recognition and treatment may prevent the occurrence of irreversible neurological sequelae, as "active" brain damage continues after the initial injury (5).
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