Maik Urban

Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome

We report on a 13-year-old patient followed since birth. He is the only offspring of young, non-consanguineous German parents. His mother has an isolated left cleft of lip and a cleft palate. At birth, our patient presented with bilaterally cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetrical deficiencies of the long bones of the lower limbs. Haematological evaluation demonstrated a leukaemoid reaction during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first two years of life. Intellectual development has been normal. Comparison with two similar cases from the literature suggests a non-random phenotypic overlap of Roberts syndrome (MIM 268300) and TAR syndrome (MIM 274000). Such clinical constellations may be key observations to understand the genetic relationship of Roberts syndrome and TAR syndrome in future phenotype-genotype correlations.

Craniosynostosis in cherubism

Cherubism is a rare autosomal dominant fibro-osseous disorder that affects almost exclusively maxilla and mandible. Extracranial skeletal involvement is rare. We report on three affected males in three generations. The youngest affected relative was examined at age 4 months. He also had craniosynostosis. His affected father and grandfather had cherubism and clubbing of the fingers. Cherubism was mapped to region 4p16. Because of the associated cranio-synostosis, we excluded the FGFR3 gene as a candidate gene for cherubism.

Ellis-van Creveld syndrome: examination at 15 weeks' gestation.

In 1940, Ellis and van Creveld defined a syndrome they referred to as chondro‐ectodermal dysplasia. This autosomal recessive condition, now usually referred to as Ellis–van Creveld syndrome (EVC), comprises bilateral postaxial polydactyly, a chondrodysplasia, characterized by shortness of limbs, and ectodermal dysplasia. Congenital heart defects are also common. There are many reports in medical literature describing affected newborns and even, older children. Here, we report the clinical, radiological and histological findings in a 15‐week‐old affected fetus. The diagnosis of Ellis–van Creveld syndrome in this fetus is based on a positive family history (an affected sib) and shortness of long bones as well as hexadactyly diagnosed by prenatal ultrasonography.

Moderne, an klinischen Anforderungen orientierte Fetalautopsie unter Nutzung von informationstechnischen Methoden*

ZusammenfassungDie medizinische und technologische Forschung in der pränatalen Diagnostik erfuhr in der letzten Zeit enorme Fortschritte. Unter Anwendung hochauflösender Ultraschalltechnik und Farbdopplersonographie gelingt den pränatal tätigen Gynäkologen eine immer frühere und genauere Diagnostik fetaler Fehlbildungen und Anomalien während der Schwangerschaft. Herzfehler lassen sich im pränatalen Ultraschall bereits in der 8. bis 10. Schwangerschaftswoche erkennen. Diese Entwicklung hat zu einer wesentlichen qualitativen Veränderung der klinischen Anforderungen an die Fetalautopsie geführt, so daß eine Fetalautopsie im herkömmlichen Verständnis diesen erweiterten Anforderungen nicht entsprechen kann. Stellt sich der Pathologe dieser Herausforderung nicht, wird die Bedeutung der Fetalautopsie für die Kliniken, insbesondere an spezialisierten Einrichtungen, sinken. Durch die Entwicklung von Videotechnik, digitalen Bilddatenbanken und modernen Kommunikationstechniken stehen dem Pathologen die technischen Hilfsmittel zur Verfügung, den neuen Anforderungen gerecht zu werden. Neben diesen technischen Voraussetzungen spielt die interdisziplinäre Zusammenarbeit mit den Gynäkologen und Genetikern in der Diagnostik eine entscheidende Rolle. Im vorliegenden Beitrag wird vorgestellt, wie unter Nutzung einer interdisziplinären Datenbank an der Charité routinemäßig Fetalautopsien durchgeführt werden.SummaryModern ultrasonic diagnostic instruments with high resolution and color Doppler sonography allow the obstetrician to describe pathological findings very precisely and at an early stage of pregnancy. The use of high-resolution ultrasound makes it possible to detect heart malformations already between the 8th and 10th week of gestation. This development has essentially changed the clinical requirements on fetal autopsy which in its traditional way no longer meets the increased demands. Unless the pathologists faces this challenge the importance of fetal autopsy will diminish. Modern image databases and communication techniques allow the pathologist to have direct access to text and images of pre-findings by other clinics. Great importance, however, must be attached to the interdisciplinary cooperation with obstetricians and geneticists. We report on routine fetal autopsy by using an interdisciplinary database an the Charité.