Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

In‐frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males

“…E1). This X-inactivation pattern resembled that observed in females with OPD [Robertson et al, 2003;Robertson, 2007], but was not associated with skeletal and facial dysmorphisms.…”

“…However, we also observed some slight differences with the OPD features. In particular, the antero-posterior cranial diameter was reduced, the small bones of the hands were not undertubulated and the radial bowing was relatively mild [Robertson, 2007]. In addition, deafness, cleft palate, frontal hyperostosis and metaphyseal anomalies, typical of the OPD spectrum, were not observed in these boys (Table I).…”

“…Females with FLNA mutations leading to OPD exhibit skewed Xinactivation, as opposed to random X-inactivation associated to PH causing mutations [Robertson et al, 2003;Robertson, 2007]. We therefore tested the pattern of X-inactivation in individual II:2.…”

When Closure Fails: What the Radiologist Needs to Know About the Embryology, Anatomy, and Prenatal Imaging of Ventral Body Wall Defects

“…22,28 In the literature, a variety of prevalence rates have been reported for omphalocele, ranging from 0.8-3.9 per 10,000 births, reflecting differences in level of ascertainment, and characteristics of the population and geographical region. 29,30 Concurrent malformations, including gastrointestinal and genitourinary anomalies, neural tube defects, and congenital heart defects are described in up to 74% of fetuses, either associated (Table 1) [31][32][33][34][35][36][37] or not associated with genetic conditions. 30 For example, omphalocele is an important sonographic marker for Beckwith-Wiedemann syndrome (Fig.…”

Angeborene Hirnfehlbildungen und geistige Behinderung

“…Aufgrund der hohen intrauterinen und perinatalen Letalität hemizygoter Träger einer FLNA-Mutation sind die genetische Diagnostik und Beratung für die betroffenen Familien von besonderer Bedeutung. Spezifische "gain of function"-Mutationen im FLNA-Gen verursachen darüber hinaus auch ein breites Spektrum von Skeletterkrankungen einschließlich des oto-palato-digitalen Syndroms 1 (OPD1: OMIM 311300) und 2 (OPD2: OMIM 304120), der frontometaphysären Dysplasie (FMD; OMIM 305620) sowie des Melnick-Needles-Syndroms (MNS; OMIM 309350) [13]. Darüber hinaus wurden spezifische FLNA-Mutationen auch bei Patienten mit einer Form der X-chromosomal vererbten Herzklappendystrophie [12] sowie bei Patienten mit intestinaler Pseudoobstruktion und ZNS-Beteiligung (ZNS: zentrales Nervensystem) nachgewiesen [6,10].…”