A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 5, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Contiguous gene deletion of TBX5 and TBX3: report of another case
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 5, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Sensorineural hearing loss in a patient with Swyer syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 5, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - December 5, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Sinus pericranii in achondroplasia: a case report and review of the literature
In the field of dysmorphology, achondroplasia is a well-known disorder. Sinus pericranii (SP), however, is not. The latter condition is a rare vascular malformation characterized by abnormal connections between the intracranial and the extracranial venous drainage pathways. The etiology of SP remains unclear, and yet, these defects can be present at birth, develop spontaneously later, or evolve following head trauma. Here, we report on a 2-year-old male with achondroplasia, SP, and craniocervical junction stenosis. The latter two defects required surgical correction. SP is an underappreciated malformation that we propose m...
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel COL1A1 mutation causing a variant of osteogenesis imperfecta
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Occurrence of nasal dermoid cysts in a family with a single maxillary median central incisor: extending the clinical spectrum
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Jejunal atresia, periodic fevers and psoriatic arthropathy in Baraitser–Winter malformation syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Atypical osteogenesis imperfecta caused by a 17q21.33 deletion involving COL1A1
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Two patients with 19p13.2 deletion (Malan syndrome) involving NFIX and CACNA1A with overgrowth, developmental delay, and epilepsy
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
3q29 Chromosomal duplication in a neonate with associated myelomeningocele and midline cranial defects
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Clinical course over five decades of a woman carrying 16p13.3 microduplication
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring
In this study, we describe two patients with a recombinant chromosome secondary to a maternal intrachromosomal insertion. Patient 1 was a girl with dup(6)(p22.3p25.3). Patient 2 was a boy with dup(2)(q24.2q32.1). Both familial rearrangements were characterized by means of GTG-bands, fluorescence in-situ hybridization, and comparative genomic hybridization microarray analyses. Patient 1 had an ∼23 Mb gain that involved the bands 6p22.3-6p25.3. Patient 2 had an ∼23 Mb gain (cytobands 2q24.2–2q32.1) and a further ∼1.9 Mb gain of 2p16.2–p16.3. The phenotype of each patient was in agreement with the typical 6p d...
Source: Clinical Dysmorphology - September 7, 2017 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
