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Upper Limb Muscles
Published in Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo, Handbook of Muscle Variations and Anomalies in Humans, 2022
Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo
Mieden (1982) describes an infant with median cleft lip, hypotelorism, and alobar holoprosencephaly. The fourth lumbrical muscle was absent on the left side (Mieden 1982). The author does not specify if it was a hand or foot lumbrical. Absence, doubling, and anomalous insertions of one or more of the lumbricals have been observed in infants with Neu-Laxova syndrome (Shved et al. 1985). On the right hand of a male neonate with Meckel syndrome, Pettersen (1984) observed that the fourth lumbrical attached to the ulnar aspect of the fourth digit, and this muscle also had an attachment to the sixth digit. On the left hand, the third lumbrical attached to the ulnar side of the fourth digit.
Serine deficiencies
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Neu-Laxova syndrome is a lethal disease with multiple congenital anomalies [21] patients have microcephaly, distinctive facial features, ichthyosis and malformations of the brain including lissencephaly and cerebellar hypoplasia. It may result from mutations in any of the three enzymes of serine biosynthesis [22].
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Differential diagnosis:Neu-Laxova syndrome usually presents with microcephaly, normal vertebral bodies and long bones and skin anomalies; achondrogenesis all types (pp. 212, 104, 63); cerebroarthrodigital syndrome (p. 509).
Prenatal genetic diagnosis of Neu-Laxova syndrome
Published in Journal of Obstetrics and Gynaecology, 2018
Amber M. Wood, Amy T. Mottola, Eleanor H. Rhee, Jeffrey A. Kuller
A 21-year-old woman, gravida 3 para 0, presented for first trimester screening. Pregnancy was notable for consanguinity (Figure 1) and a history of a prior foetus with Neu-Laxova syndrome (NLS). Her first pregnancy was terminated at 7 months in India due to abnormal ultrasound findings, including foetal growth restriction, foetal akinesia, microcephaly, micrognathia and scoliosis. The autopsy revealed microcephaly, lissencephaly, agenesis of the corpus callosum, cerebellar hypoplasia, small long bones, lumbar kyphosis, congenital cataracts and dysmorphic features, and a clinical diagnosis of NLS was made. Genetic testing was not performed. Her subsequent pregnancy was terminated at 6 weeks.