Establishing cleft services in developing countries: Complications of cleft lip and palate surgery in rural areas of Indonesia.

Background: Cleft treatment is frequently performed in Indonesia, mostly in charity missions, but without a postoperative protocol it is difficult to establish the risks and complications of cleft treatment. The present study was designed to give an overview of current cleft lip and palate treatment strategies in Indonesia and to assess the complication rates during and after surgery.

Methods: This prospective study evaluated anesthetic, intraoperative surgical, and short-term postoperative complications in patients undergoing primary, secondary, or corrective surgery for cleft lip and palate deformities.

Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.

In a developmentally delayed girl with an autism spectrum disorder, Single nucleotide polymorphism (SNP) array analysis showed a de novo 280 kb deletion on chromosome 16q23.2 involving two genes, GAN and CMIP. Inactivating mutations in GAN cause the autosomal recessive disorder giant axonal neuropathy, not present in our patient.

Megalencephalic leukoencephalopathy with cysts without MLC1 defect.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues.

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.

Background: m.14487T>C, a missense mutation (p.M63V) affecting the ND6 subunit of complex I of the mitochondrial respiratory chain, has been reported in isolated childhood cases with Leigh syndrome (LS) and progressive dystonia.

Outcome at 3 years of age in a population-based cohort of extremely preterm infants.

Objective: To assess health and neurodevelopmental outcome at 3 years of age in neonatal intensive care unit (NICU)-surviving children who were born at 26 or fewer weeks of gestation in a geographically defined region of Belgium from 1999 through 2000.

Methods: The study included a clinical examination and a standardized neurologic and developmental assessment. Disabilities were defined by international criteria.