Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Biallelic GLDN mutations have recently been identified among infants with lethal congenital contracture syndrome 11 (LCCS11). GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report six infants and children from four unrelated families with biallelic GLDN mutations, four of whom survived beyond the neonatal period into infancy, childhood, and late adolescence with intensive care and chronic respiratory and nutritional support. Our findings expand the genotypic and phenotypic spectrum of LCCS11 and demonstrate that the condition may not necessarily be lethal in the neonatal period.

Artrogryposis multiplex congenita -- a rare fetal condition caused by maternal myasthenia gravis.

OBJECTIVES: To look at the occurrence of arthrogryposis multiplex congenita in newborn of mothers with myasthenia gravis (MG) and factors connected to this. MATERIAL AND METHODS: We retrospectively studied 176 births by 79 MG mothers, recorded in the Medical Birth Registry of Norway (MBRN). Four (2.2%) newborns (including one pair of twins) born with severe skeletal anomalies were identified. RESULTS: All four children died. Three had findings consistent with arthrogryposis multiplexa congenita (AMC), one had a fetal akinesia deformation sequence (FADS). The mother of the child with FADS had previously given birth to a child with neonatal MG. She was now in complete MG remission. The mother of the twins with AMC later gave birth to a child with neonatal MG. CONCLUSION: Siblings of an affected child -- either with neonatal MG or AMC -- have an increased risk to develop either neonatal MG or AMC. As this appears to be independent of the MG mother's clinical state, it is important to discuss previous pregnancy outcomes with all female MG patients.

[Severe neonatal myasthenia with arthrogryposis]. / Myasthénie néonatale sévère avec arthrogrypose: à propos d'un cas et revue de la littérature.

Maternal myasthenia gravis has been associated with the presence of neonatal myasthania and sometimes fetal congenital anomalies. The purpose of this paper is to present an infant with multiple deformations born to a mother with myasthenia gravis. The infant presented with arthrogryposis multiplex and pulmonary hypoplasia. The new born died within the first day of life. Twenty-seven other cases of neonatal myasthenia with arthrogryposis have been reported. Twenty-two of them were stillborn or died. The surviving children needed ventilatory assistance for a long period.

The spectrum of arthrogryposis in 33 chinese children.

The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multiplex congenita (n = 18), distal arthrogryposis syndrome (n = 2) and Streeter syndrome (n = 1); group II (limb involvement with other malformation or anomalies; n = 7) having congenital contractural arachnodactyly (n = 3), Larsen syndrome (n = 1), multiple pterygium syndrome (n = 1), craniocarpotarsal dystrophy (n = 1), and Schwartz Jampel syndrome (n = 1); and group III (limb involvement with central nervous system dysfunction or mental retardation; n = 5) having myotonia dystrophica (n = 2), congenital muscular dystrophy (n = 1), foetal alcohol syndrome (n = 1) and Pena-Shokeir syndrome (n = 1). Three children died, one each of arthrogryposis multiplex congenita, congenital contractural arachnodactyly and myotonia dystrophica. The majority had a good prognosis with independent function and mobility.