laryngomalacia/hearing loss

The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous albinism, agenesis of the corpus callosum, cataract, cardiomyopathy, cleft lip, and immunodeficiency. Only 14 cases of Vici syndrome have yet been reported,

We present two siblings with severe laryngomalacia requiring surgical intervention during the newborn period, microcephaly, developmental delay, cleft palate, preaxial polydactyly, dysplastic nails and conductive hearing loss (persistent after tympanostomy tube placement). In addition the girl has

Waardenburg syndrome (WS) is a rare autosomal dominant condition characterised by sensorineural hearing loss, in conjunction with pigmentary abnormalities and defects of the neural crest-derived tissues. Depending on the additional phenotypic characteristics, WS is classified into four types, viz.

BACKGROUND Several progeroid disorders presenting a specific "old-man" appearance since birth or childhood have been described. Here, five patients with a history of severe intrauterine and postnatal growth retardation and pseudohydrocephaloid cranium noted after birth that were suggestive of

We report on a father and his 4-year-old son sharing a characteristic dysmorphic facial phenotype (including hyperteleroism, prominent forehead, and wide nasal bridge), macrocephaly, hearing loss, palatal clefting, developmental delay, hypotonia and bony abnormalities including marked cranial

Guidelines suggest that all children with Down's syndrome have hearing testing on a regular basis. Since 2004, the ear, nose and throat (ENT), audiology and education services have conducted a joint clinic for annual ENT health and hearing surveillance of all preschool children with Down's syndrome

Myelin protein zero (MPZ) mutations cause demyelinating neuropathies that range from severe neonatal to milder adult forms. We report a 36-year-old man who developed weakness of his left little finger adduction 3 years earlier. The weakness progressed to his other limbs. Examination revealed mildly

We report on a 13-year-old girl with normal karyotype and a de novo cryptic terminal deletion of chromosome 2q, detected by subtelomeric FISH analysis. Further investigation with array-CGH analysis using the 1Mb resolution Spectral Chip 2600 (Spectral Genomics) confirmed the deletion and also showed

Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we delineate the phenotype of biotinidase deficiency in our cohort. The genotypes and

Vici syndrome (OMIM 242840) is a rare syndrome and since its initial description by Vici et al. [1988], only 29 cases have been reported. We describe two brothers from healthy consanguineous Turkish parents with psychomotor delay, congenital bilateral cataracts, high palate, long philtrum,

OBJECTIVE Soto's syndrome is a genetic disorder caused by mutations in the NSD1 gene. It is characterized by excessive growth in early life. It features craniofacial abnormalities, developmental delay, hypotonia and advanced bone age. A review of the current literature reveals only chronic otitis

The authors report on a child with typical Larsen's syndrome with some rare findings such as mixed-type hearing loss and with some potentially fatal operative risks including laryngomalacia and cervical instability. A few deaths with Larsen's syndrome have been reported associated with various fatal

We report on three unrelated patients with the 22q11.2 microdeletion syndrome (del22q11) who have phenotypic anomalies compatible with oculo-auriculo-vertebral spectrum (OAVS). Hemifacial microsomia, unilateral microtia, hearing loss, congenital heart/aortic arch arteries defects, and feeding

BACKGROUND The interstitial deletion of chromosome 5q is a disease of rare incidence, which might be hereditary or caused by spontaneous changes within the chromosome respectively. The pathology is based on the loss of chromosomal material within the long arm of chromosome 5. Clinical manifestations