1976
DOI: 10.1007/bf00497676
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Studies of malformation syndromes of man XXXIX: A craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: ?Craniofacial dyssynostosis?

Abstract: We report clinical findings in 2 sisters and 5 sporadic cases with a "new" type of craniosynostosis/craniofacial dysostosis and shortness of stature. Premature closure of lambdoid sutures and posterior part of sagittal suture causes a posteriorly narrow, dolichocephalic skull with small, flat or bulging occiput and protuberance of the forehead; disturbance of the growth of basal skull structures leads to craniofacial dysostosis and (secondary) anomalies of the face. In one patient the coronal suture was also i… Show more

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Cited by 40 publications
(57 citation statements)
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“…The wide range of phenotypic heterogeneity of craniofacial dyssynostosis syndrome, as illustrated in the original report by Neuhäuser et al [1976] and in our patient with the unusual traits described above, is probably expected to reflect a corresponding degree of genetic heterogeneity as has been demonstrated, for example, in Pfeiffer syndrome where different mutations in the genes for the fibroblast growth factor receptor family have been described [Muenke et al, 1994;Rutland et al, 1995].…”
Section: Discussionmentioning
confidence: 73%
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“…The wide range of phenotypic heterogeneity of craniofacial dyssynostosis syndrome, as illustrated in the original report by Neuhäuser et al [1976] and in our patient with the unusual traits described above, is probably expected to reflect a corresponding degree of genetic heterogeneity as has been demonstrated, for example, in Pfeiffer syndrome where different mutations in the genes for the fibroblast growth factor receptor family have been described [Muenke et al, 1994;Rutland et al, 1995].…”
Section: Discussionmentioning
confidence: 73%
“…In their original paper, Neuhäuser et al [1976] hypothesised a high gene frequency of craniofacial dyssynostosis in peoples of Spanish descent; an assumption based on the finding that four of their seven patients were of Spanish origin while the ancestral countries (Holland and Ireland) of another two of their patients have had close historical contact with Spain. The identification of craniofacial dyssynostosis syndrome in an Arab patient, as illustrated in the present report, would support the theme of the above mentioned hypothesis, considering the historical close Arabic-Spanish interaction during the Middle Ages.…”
Section: Discussionmentioning
confidence: 98%
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“…The phenotype resembled bilateral lambdoid and sagittal synostosis (BLSS), first reported in 1976. 15,16 The hallmark pattern of bilateral lambdoid and posterior sagittal suture fusion gave rise to the term "Mercedes Benz" syndrome. 15 This heterogeneous disorder, recently described in a series of 11 patients, results in a characteristic head shape with frontal bossing, turribrachycephaly, biparietal narrowing, occipital concavity, and inferior displacement of the ears.…”
Section: History and Examinationmentioning
confidence: 99%