What's already known about this topic? Osteopathia striata with cranial sclerosis (OSCS) is an X‐linked dominant disorder combining hyperostosis of the skull and metaphyseal striations in females and a more severe phenotype in males with fetal malformations and risk of death in early childhood. What does this study add? This case emphasizes that OSCS must be considered in fetuses with abnormalities such as macrocephaly, bony sclerosis and fibular hypoplasia, particularly if the mother is macrocephalic.

Purpose-Objective: Children with syndromic craniosynostosis appear to have a higher rate of structural brain abnormalities than in the general population, but most reports describe a low number of patients and little detail on type of brain malformation. They often show unexplained neurological impairment. We hypothesise that the hippocampus may be abnormally developed which may influence the neurological outcome. Material and methods: In a prospective study we assessed the shape and volume of the hippocampus in 55 children with syndromic craniosynostosis between the age of 6 and 14 years treated in the Craniofacial Center in Rotterdam. The study population included Apert, Crouzon/Pfeiffer, Muenke and Saethre-Chotzen syndrome patients, and patients with a complex form of craniosynostosis. We included five healthy controls. All patients and controls underwent brain MRI of the brain using a 1.5T system. Shape of the hippocampus was assessed visually on a 3D T1 volume set. Volume measurements were performed on hippocampus segmentations obtained with an in-house developed automated method followed by manual editing. Results: Ten patients visually showed a hypoplastic hippocampus on the 3D data set. Preliminary results of volume measurements done by post processing technique show that the hippocampus of these patients indeed have a lower volume compared to our healthy controls. Discussion and conclusion: Abnormal dysplastic hippocampus seen in children with syndromic craniosynostosis may play a role in the development of their neurological impairment.

It has been described that both the colon and distal ileum present with a physiological hypersignal on T1-weighted sequences during the second and third trimesters of pregnancy because of their protein-rich meconium content, it was unclear whether the normal characteristics that have been described on fetal MRI can be applied to gastrointestinal (GI) obstructions.

Prenatal DiagnosisVolume 29, Issue 2 p. 179-181 Research Letter Prenatal diagnosis of a complete sternal cleft in a child with PHACES syndrome—a case report Nathalie Thébault, Nathalie Thébault Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier BP 2367, 22023 Saint Brieuc Cedex, FranceSearch for more papers by this authorHélène Le Guern, Hélène Le Guern Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier BP 2367, 22023 Saint Brieuc Cedex, FranceSearch for more papers by this authorBernard Le Fiblec, Corresponding Author Bernard Le Fiblec bernard.lefiblec@ch-stbrieuc.fr Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier BP 2367, 22023 Saint Brieuc Cedex, FranceCentre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier BP 2367, 22023 Saint Brieuc Cedex, France.Search for more papers by this authorMathilde Ferry, Mathilde Ferry Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier BP 2367, 22023 Saint Brieuc Cedex, FranceSearch for more papers by this authorSylvie Odent, Sylvie Odent Service de Génétique Médicale, CHU Pontchaillou, 35033 Rennes Cedex, FranceSearch for more papers by this author Nathalie Thébault, Nathalie Thébault Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier BP 2367, 22023 Saint Brieuc Cedex, FranceSearch for more papers by this authorHélène Le Guern, Hélène Le Guern Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier BP 2367, 22023 Saint Brieuc Cedex, FranceSearch for more papers by this authorBernard Le Fiblec, Corresponding Author Bernard Le Fiblec bernard.lefiblec@ch-stbrieuc.fr Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier BP 2367, 22023 Saint Brieuc Cedex, FranceCentre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier BP 2367, 22023 Saint Brieuc Cedex, France.Search for more papers by this authorMathilde Ferry, Mathilde Ferry Centre Pluridisciplinaire de Diagnostic Prénatal, Centre Hospitalier BP 2367, 22023 Saint Brieuc Cedex, FranceSearch for more papers by this authorSylvie Odent, Sylvie Odent Service de Génétique Médicale, CHU Pontchaillou, 35033 Rennes Cedex, FranceSearch for more papers by this author First published: 13 January 2009 https://doi.org/10.1002/pd.2117Citations: 7AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume29, Issue2February 2009Pages 179-181 RelatedInformation

Rhombencephalosynapsis is an uncommon cerebellar malformation defined by vermian agenesis with fusion of the hemispheres and of the dentate nuclei. Embryologic and genetic mechanisms are still unknown, and to date, no animal models are available. Ultrasound diagnosis is generally suspected after 22 weeks of gestation, and usually the abnormality is suggested by ventriculomegaly. Morphological analysis of 40 fetuses after medical termination of pregnancy allowed us to confirm that rhombencephalosynapsis was always associated with other brain abnormalities or malformations: Purkinje cell heterotopias, fusion of colliculi, forking and/or atresia of the aqueduct and of the third ventricle resulting in a fusion of the thalami, agenesis of the corpus callosum, lobar holoprosencephaly and neural tube defects. Pons and medulla were very infrequently abnormal. Furthermore, complete autopsy made it possible to separate either pure neurologic phenotypes, or associated with extraneural anomalies from syndromic forms: Gomez–Lopez-Hernandez syndrome (1 case) and VACTERL-H syndrome (6 cases). The number of our fetal cases strongly suggests that VACTERL-H association related with rhombencephalosynapsis emerges as a non-random association. Furthermore, recurrence and consanguinity were noted in two different families, which argue for a sporadic or inherited cause. From our results, it could be suggested that rhombencephalosynapsis may be due to defective genes regulating formation of the roof plate and the development of midline cerebellar primordium at the junction of the mesencephalon and of the first rhombomere.