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A sternal cleft or bifid sternum is a rare anterior chest wall abnormality. Although several cases have been reported in clinical literature, very little reference has been made to this anomaly in palaeopathological texts. This paper presents a case of superior sternal clefting observed in a middle-aged female with concurrent Paget's disease and congenital hyperkyphosis excavated from a 19th century Dutch psychiatric asylum cemetery in Bloemendaal, The Netherlands. The embryological development of the sternum and associated developmental abnormalities are reviewed and a differential diagnosis is performed on the suite of observed skeletal anomalies. Goltz syndrome, congenital hypothyroidism, disruption of the Hoxb-4 gene, acute excessive maternal alcohol consumption during pregnancy, Coffin-Lowry syndrome and PHACES syndrome were considered as possible causative agents, with the latter two conditions determined to be the most likely. The psychiatric asylum context, from which the individual came, supports the differential diagnosis as neurological abnormalities are common in these two syndromes. This article demonstrates that the integration of embryology, modern clinical literature and palaeopathological principles is vital in the interpretation of developmental anomalies from an archaeological context., (Copyright © 2013 Elsevier GmbH. All rights reserved.)

Respiratory insufficiency due to respiratory muscle weakness is a common complication of many neuromuscular diseases. The prevalence of respiratory failure in facioscapulohumeral muscular dystrophy (FSHD) is unknown. The authors identified 10 FSHD patients on nocturnal ventilatory support at home, representing approximately 1% of the Dutch FSHD population. Severe muscle disease, wheelchair dependency, and kyphoscoliosis appeared to be risk factors for respiratory failure.

Objective: To determine the live birth prevalence of neural tube defects (NTD) in the Netherlands and describe the clinical picture., Design: Descriptive., Setting: TNO Prevention and Health, Leiden, the Netherlands., Method: Data collected through active surveillance of NTD on a monthly basis by paediatricians throughout the country., Results: From October 1993 to September 1995, 203 infants with NTD were registered. Six were diagnosed with anencephaly, 10 with encephalocele and 157 with spina bifida. On 30 children no further information was available. Seventy-nine per cent of children with spina bifida had a myelomeningocele and 11% had a meningocele. Hydrocephalus was found in 75% of all registered infants and in 81% of infants with myelomeningocele. In 18% of the latter group a kyphosis was diagnosed. In 45% of 131 children prognosis of ambulation fair: they were expected to learn to walk. In 32% prognosis for motor disorder was very poor, and unsupported sitting was considered to be unlikely. At the time of registration, when most children were less than a month old, 55 (27%) had died; in infants with a myelomeningocele this was 35%. In many children treatment had not been started, probably because the prognosis was poor. Some had not been referred to a multidisciplinary team and only one of them received a hydrocephalus valve., Conclusion: The prevalence of spina bifida in the Netherlands is at least 100 live-born children per year among 195,000 total births. Mortality in the first month is high and for many surviving infants a severe handicap can be expected. Preventive strategies (such as folic acid supplementation) are urgently needed.