The trichorhinophalangeal syndromes are rare malformation syndromes with autosomal dominant inheritance. Diagnostic features include distinctive facial dysmorphisms and various skeletal abnormalities. The affected gene, the TRPS1 on 8q24.1, was first identified in 2000 and more than 50 mutations have been found. We present a patient with a novel nonsense mutation in the TRPS1 gene. Copyright 20...

We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-uridyltransferase (GALT). Comparing the clinical features of our case wit...

1. Case description A 23-year-old nulliparous woman was referred for fetal level II sonography owing to abnormal ultrasound findings, including skeletal anomalies and oligohydramnios at 20 weeks of gestation. Detailed evaluation of the fetus was difficult due to the absence of amniotic fluid. Thus, we infused normal saline into the amniotic cavity after amniocentesis for fetal karyotyping and f...

Fraser syndrome is an autosomal recessive disorder in which the life expectancy is <1 year. The main features are cryptophthalmos, ear, nose and skeletal malformations, syndactyly, laryngeal stenosis and malformation of the uro-genital system, lungs, liver and central nervous system (CNS). We report the clinical, laboratory and post-mortem findings of this condition in an elderly woman aged 96 ...

Sclerosteosis is a unique autosomal recessive condition in which skeletal overgrowth is associated with syndactyly and digital malformation. Analysis of the course and clinical features in 25 affected individuals showed that the condition is progressive and potentially lethal. Facial palsy and deafness are common complications and raised intracranial pressure may develop. The clinical and radio...

BACKGROUND Clinical advice to pregnant women with asthma is to maintain optimal therapeutic management; however, potential adverse effects of asthma treatments on fetal development remain uncertain. A study was undertaken to assess the association between maternal asthma and gestational exposure to asthma medications with risk of congenital malformation in offspring. METHODS A matched case-co...

Abstract Background Melorheostosis is a skeletal disorder giving rise to dripping wax appearance. The exact cause still unclear, and the diagnosis always challenging due its wide differential diagnoses. Soft tissue involvement of melorheostosis has been reported in previous literatures but it rare phenomenon. Case presentation A 10-year-old child with presented hematuria. Ultrasonography (USG) ...

We report a patient with severe mental retardation (MR), microcephaly, Dandy-Walker malformation, bilateral lip/palate clefts, hypertrophied sublingual frenulum, lobular tongue, absent thumbs, and other skeletal abnormalities, including Y-shaped metacarpals and urogenital abnormalities. High-resolution karyotype and subtelomeric fluorescence in situ hybridization were normal. We propose that hi...

Ellis-van Creveld syndrome also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a rare genetic disorder of the skeletal dysplasia. 'Six-fingered dwarfism' (digital integer deficiency) was an alternative designation used for this condition when it was being studied in the Amish. It is characterized by short-limb dwarfism, polydactyly, malformation of the bones of the wrist, dys...

Myelomeningocele (MMC), one of the most common congenital malformations, can result in severe lifelong disabilities, including paraplegia, hydrocephalus, Arnold-Chiari II malformation, incontinence, sexual dysfunction, skeletal deformations, and mental impairment. MMC was the first nonlethal anomaly to be treated by fetal surgery. Studies in animals provide compelling evidence that the primary ...