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Alx4 Dysfunction Disrupts Craniofacial and Epidermal Development
(Oxford Univ Press, 2009)
Genetic control of craniofacial morphogenesis requires a complex interaction of numerous genes encoding factors essential for patterning and differentiation. We present two Turkish families with a new autosomal recessive ...
Evaluation Of Prenatal-Onset Osteochondrodysplasias By Ultrasonography: A Retrospective And Prospective Analysis
(Wiley-Liss, 2008)
The osteochondrodysplasia or skeletal dysplasias are a heterogenous group of over 350 distinct disorders of skeletogenesis. Many manifest in the prenatal diagnosis. A retrospective analysis evaluated 1,500 cases referred ...
Homozygous Inactivating Mutations In The Nkx3-2 Gene Result In Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
(Cell Press, 2009)
Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is a rare skeletal dysplasia with only a few cases reported in the literature. Affected individuals have a disproportionate short stature with a short and stiff neck and ...
Identification Of Cant1 Mutations In Desbuquois Dysplasia
(Cell Press, 2009)
Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, we identified seven distinct ...
Infantile Systemic Hyalinosis: A Case Report
(Deri Zuhrevi Hastaliklar Dernegi, 2009)
Infantile systemic hyalinosis (ISH) is an autosomal recessive, rare disorder in which hyaline deposition occurs in multiple organ systems, including the skin. It is characterised by painful joint contractures, gingival ...
Tbx15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
(Cell Press, 2008)
Members of the evolutionarily conserved T-box family of transcription factors are important players in developmental processes that include mesoderm formation and patterning and organogenesis both in vertebrates and ...
Congenital Contractural Arachnodactyly (Beals Syndrome)
(2006)
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae ...
A Molecular and Clinical Study of Larsen Syndrome Caused by Mutations in FLNB
(BMJ, 2007)
Background: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or ...