Pfeiffer syndrome type 2 – two cases from the Pleven Registry of Congenital Anomalies

Pfeiff er syndrome is a rare autosomal dominant congenital disorder with the main features of acrocephalic skull, midfacial hypoplasia,syndactyly of hands and feet, broad thumbs and big toes. Three clinical subtypes (with diff erent diagnostic and prognostic implications)have been identifi ed. We report on two cases of Pfeiff er syndrome type 2 (one of them diagnosed prenatally and theother detected in the newborn), identifi ed through screening for congenital defects as an activity of the Pleven Registry of CongenitalAnomalies (member of EUROCAT). Case 1 was a male foetus from terminated pregnancy following prenatal diagnosis. Foetal morphologyultrasound in the 28th week of gestation revealed craniosynostosis, cloverleaf skull, fl at face, exophthalmos, macroglossia,short ribs, deformed spine, and abnormally shortened limbs (micromelia). Clinical examination after birth confi rmed the diagnosisof Pfeiff er syndrome type 2. Case 2 was a boy (born at term, 40th week of gestation) diagnosed with Pfeiff er syndrome type 2 at birth.Multiple malformations were presented including cloverleaf skull, craniosynostosis of coronal suture, midfacial hypoplasia, depressednasal bridge, high palate, exophthalmos, down-slanted palpebral fi ssures, hypertelorism, low-set ears, short neck, broad andmedially deviated thumbs and hallux, clinodactyly V, skin syndactyly of II-III toe, short thorax with sternal depression, and anal atresia.The patient died from respiratory distress syndrome on the ninth day after birth. Severe malformations, high mortality andproblems in clinical management determine poor prognosis in most cases of Pfeiff er syndrome type 2. Early prenatal diagnosis inpregnancies with severe foetal malformations and poor prognosis gives parents more time and opportunities for reproductivechoices.
Keywords: Pfeiff er syndrome type 2; cloverleaf skull; registry of congenital anomalies; prenatal diagnosis

Category: -> Uncategorised
Volume: Vol. 62, No 2, April - June 2018
Authors: Katya Kovacheva, Zornica Kamburova, Victoria Atanasova, Andrey Hristov
Reference work: Paediatr Croat. 2018;62:96-100

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