A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 5, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 5, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Cantú syndrome, the changing phenotype: a report of the two oldest Dutch patients
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 5, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics
In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, hypertelorism, up-slanting palpebral fissures, almond-shaped eyes, and hypodontia, all leading to the clinical diagnosis of Char syndrome. Genetic analysis showed heterozygosity for the novel variant c.851T>C, p. Leu284Ser in the TFAP2B gene. Family analysis suggested that at least 20 members, extending six generations back, were affected. All 10 members available for genetic testing were heterozygous for the novel pathogenic variant. Qualitati...
Source: Clinical Dysmorphology - June 5, 2018 Category: Genetics & Stem Cells Tags: Original Article Source Type: research
Fragile X syndrome with mosaic size mutation in a Bantu patient from Central Africa
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A newborn diagnosed with van Maldergem syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Blepharophimosis–ptosis–epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Mutation in the ADNP gene associated with Noonan syndrome features
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Phenotype of two Polish patients with Schaaf–Yang syndrome confirmed by identifying mutation in MAGEL2 gene
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A patient with chromosome 18p deletion and congenital hypoglossia
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
First case of nonalcoholic steatohepatitis in a child with del(1p36) and dup (Xp22): review of the literature
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - March 6, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Clinical and molecular characterization of the first familial report of 1p32 microdeletion
We describe the inheritance of the 1p32 deletion and discuss the relevance of this deletion to the described phenotype. The differences in clinical and molecular characteristics between the proband and other published reports are reviewed. Patients were evaluated in Genetics Clinic with history, examination and investigation. The existing literature on interstitial deletions of 1p was reviewed. Here, we report on a three-generation family, where the index patient was an adult female with learning difficulty, dysmorphic features, microcephaly, ambiguous genitalia, congenital hip dislocation and brachydactyly in whom a mater...
Source: Clinical Dysmorphology - March 6, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children
Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare disease entity that results in congenital craniofacial anomalies that are caused by abnormal development of the first and second pharyngeal arches. MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial appearance. Extracraniofacial malformations include esophageal atresia, congenital heart disease, and radial ray abnormalities. Heterozygous mutations in the elongation factor Tu GTP-binding domain containing 2 (EFTUD2) gene have been shown to result in MFDGA. To date, there have b...
Source: Clinical Dysmorphology - March 6, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss
Heterozygous microdeletions of chromosome 2p21 encompassing only the SIX2 gene have been described in two families to date. The clinical phenotype comprised autosomal-dominant inherited frontonasal dysplasia with ptosis in one family. In the second family, conductive hearing loss was the major clinical feature described; however, the affected persons also had ptosis. Here, we present a large family combining all three predescribed features of SIX2 gene deletion. The phenotype in four affected family members in three generations consisted of bilateral congenital ptosis, epicanthus inversus, frontonasal dysplasia with broad ...
Source: Clinical Dysmorphology - March 6, 2018 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Hyperechoic renal medullary pyramids in a boy with Simpson–Golabi–Behmel syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - January 1, 2018 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
