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Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype.
A 6 month old patient is reported with a ring chromosome 18 confirmed by cytogenetic studies and in situ hybridisation. Her clinical features were similar to previous cases of ring chromosome 18Expand
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Posterior atlanto-axial fusion: A new compression clamp for laminar osteosynthesis
SummaryA new method of dorsal arthrodesis in patients with atlanto-axial instability of different etiology is described. In three patients solid laminar osteosynthesis C1/C2 was achieved by insertionExpand
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Prenatal diagnosis of a short-rib-polydactylia syndrome type Saldino-Noonan at 17 weeks' gestation
A case is described in which the family history and the sonographic findings during the 17th gestational week led to the suspicion of a short-rib-polydactylia syndrome of the Saldino-Noonan type andExpand
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Maternal uniparental disomy 15 in a fetus resulting from a balanced familial translocation t(2;15)(p11;q11.2).
Prader-Willi syndrome (PWS) is caused by loss of function of the paternal region q12 of chromosome 15 containing among others the SNRPN gene. In approximately 70% of PWS patients SNRPN is lost due toExpand
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Repair of a complete anterior cruciate tear using prolotherapy: a case report
Abstract Introduction: Surgical reconstruction is considered definitive treatment for anterior cruciate ligament (ACL) tears but precise surgical indications are debated. Some patients are reluctantExpand
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IBM‐PC compatible software for establishing metacarpophalangeal pattern profiles
We briefly present software for performing metacarpophalangeal pattern (MCPP) profile analysis, which runs on generally available low‐cost IBM (PC, XT, AT) and compatible PCs. The program is easy forExpand
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Glycogen storage disease type Ib: familial bleeding tendency
A mild bleeding tendency with characteristics of the von Willebrand disease was documented in family members of a girl with glycogen storage disease type Ib (GSD) Ib). It was assumed that a defectiveExpand
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Prenatal diagnosis of a probable hereditary syndrome with holoprosencephaly, hydrocephaly, octodactyly, and cardiac malformations
Following genetic counselling of a consanguineous couple because of a daughter born with peripheral hypoplasia of the left arm, ultrasonographic examination during the second pregnancy revealedExpand
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[On the determination of the length of the axis of the human eye with ultrasound in the living person].
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Surgical Treatment of Cervical Spine Injuries - Prognostic Aspects on Operative Procedure and Timing
The joint study of eight neurosurgical clinics regarding operative treatment of 283 cervical spine injuries which was reported at the 6th international neurosurgical congress in Sao-Paulo (10) showsExpand
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