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? 2010 Wiley-Liss, Inc. ""A Thai woman, who was affected with neurofibromatosis type 1, was followed up and re-evaluated at ages 45, 61, and 67 years. Her mother and her three brothers were also affected. The proposita was very severely affected. She was born blind with underdeveloped eyeglobes and had large plexiform neurofibromas on her face. Her eyelids were gigantic and tears drained from the orifice between them. Cutaneous neurofibromas were observed all over her body. A novel mutation c.4821delA was identified in NF1 gene, which predicted truncation of neurofibromin (p.Leu1607fs). ? 2012 Metformin Wiley Periodicals, Inc. ""We report on a sister and brother born to healthy, double first cousin Iranian parents with a seemingly unique combination of signs and symptoms consisting of intellectual disability, congenital absent voice (aphonia), hearing loss, optic atrophy, retinal dystrophy, mildly broad thumbs, and duplicated halluces. Their facial morphology was unusual: thick eyebrows, ptosis, full eyelashes, long palpebral fissures, downslanting palpebral fissures, small mouth, and low-set, posteriorly rotated ears. This phenotype does not meet the diagnostic criteria of any known entity. Because of parental consanguinity, absence of manifestations in parents, and occurrence in sibs of opposite sex, an autosomal recessive pattern of inheritance is likely. ? 2012 Wiley Periodicals, Inc. Aphonia is defined as the inability to produce speech sounds. Aphonia can be acquired, for instance due to injuries to vocal cords and inflammations MAPK Inhibitor Library or as part of psychiatric disorders, and is only rarely congenital Alkannin and part of a syndrome. Here, we describe two siblings with aphonia, distinct facial morphology, optic atrophy, retinal dystrophy, deafness, distal limb anomalies and intellectual disability. This association of findings has not been reported previously, and may constitute an autosomal recessive disorder. The proband is born to consanguineous parents (inbreeding coefficient 3/32; Fig. 1). Parents are healthy, have a normal phenotype, hearing and vision, and normal cognitive abilities. Family history is otherwise non-contributory. The first child is a 5-year-old girl born after an uneventful, term pregnancy. Exposure to possibly teratogenic agents was denied by the parents. Caesarean section was performed because of intra-uterine growth retardation. At birth, weight, length and head circumference were 2,400?g (