Introduction: Hearing impairment is the most frequent sensorial congenital defect in newborns and has increased to 2–4 cases per 1,000 live births. Sensory-neural hearing loss (SNHL) accounts for more than 90% of all hearing loss. This disorder is associated with other congenital disorders such as renal, skeletal, ocular, and cardiac disorders. Given that congenital heart diseases are life-thre...

Biotinidase (BTD) enzyme deficiency is a congenital metabolic disorder with autosomal recessive inheritance. Main symptoms in its are nervous system and skin manifestations. A 15-month-old patient who was diagnosed Li-Campeau syndrome, also BTD his clinic rapidly improved biotin treatment. With the awareness of different clinical presentations deficiency, patients presenting raising suspicion t...

Congenital amusia is a neurodevelopmental disorder that affects about 3% of the adult population. Adults experiencing this musical disorder in the absence of macroscopically visible brain injury are described as cases of congenital amusia under the assumption that the musical deficits have been present from birth. Here, we show that this disorder can be expressed in the developing brain. We fou...

Loss of fatty tissue occurring in a partial or generalized distribution is called as lipodystrophy. Generalized lipodystrophy may be congenital or acquired in nature. Congenital generalized lipodystrophy or Berardinelli-Seip syndrome is a rare autosomal recessive multisystem disorder characterized by the near absence of subcutaneous and visceral adipose tissue from birth or early infancy with s...

PURPOSE Congenital amusia (tone deafness) is a disorder in which those affected typically complain of or are identified by their inability to sing in tune. A psychophysical and possibly surrogate marker of this condition is the inability to recognize deviations in pitch that are one semitone (100 cents) or less. The aim of our study was to identify candidate brain regions that might be associat...

Congenital radioulnar synostosis is a rare disorder resulting in the fusion of the radius and ulna from birth. Management is conservative. Operative treatment rarely succeeds.

© 2015 The Authors. doi: 10.2340/00015555-1859 Journal Compilation © 2015 Acta Dermato-Venereologica. ISSN 0001-5555 Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome is an X-linked dominant disorder with fatality for male embryos (1, 2). The disorder is caused by mutations in NSDHL (NAD[P] H steroid dehydrogenase-like protein), which is of importance in the c...

OBJECTIVES To analyze chromosomes in children with suspected genetic disorder and to categorize the chromosomal basis of genetic disorder. MATERIALS AND METHODS Thirty children were selected from the patients attending genetic clinic, Department of Pediatrics, B.P. Koirala Institute of Health Sciences presenting with dysmorphic feature, mental retardation, short stature, congenital malformati...

Congenital central hypoventilation syndrome with Hirschsprung's disease, also known as Haddad syndrome, is a rare disorder with a variable phenotypic severity. The underlying cause is thought to be an abnormality of neural crest development and/or migration. Surviving neonates can have generalized autonomic nervous system dysfunction. Recent reports have identified mutations in the PHOX2B gene ...

Meckel-Gruber syndrome is a monogenic congenital disorder characterized by occipital encephalocele, polydactyly, and polycystic kidneys. This incompatible with life. We report case diagnosed on fetal ultrasound at gestational age of 22 SA 6 days, presenting the clinical triad syndrome. A medical termination pregnancy was indicated. From this rare case, through review literature, we will discuss...