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Results for “facial dysmorphism”

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At least 73 records · Page 4Linked to original sources
PubMed2001

De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus.

We report an 8-year-old girl with coarse facial features, macrocrania and developmental delay. Cranial anomalies in the form of hydrocephalus and Dandy-Walker (DW) variant malformation were detected on neuro-imaging. Karyotyping revealed a de novo interstitial deletion of bands 3q25.1 to 3q25.33. Deletion of the 3q24-q26 region appears to be associated with a somewhat similar constellation of findings of craniofacial dysmorphism (broad and depressed nasal bridge and low set posteriorly rotated ears), mental retardation, congenital heart defects, and central nervous system malformations.

Child↗
PubMed1985

[Temporomandibular dysfunction syndrome in facial dysmorphism. Surgical indications].

The abnormalities of occlusion are the main reason of the T. M. J. disorders. Often minor, they may be major as encountered in the facial dysmorphoses. For that reason we were led to indicate a surgical correction of these malformations, mainly in a functionnal goal. Each of the five cases illustrates one different point of that problem.

Adolescent↗
PubMedDate not supplied

[Dwarfism and hyperlaxity, facial dysmorphism and multiple dislocations. Larsen's syndrome?].

Five similar cases of children ranging from 6 months to 6 1/2 years of age are reported. The presented with dwarfism, generalized hyperlaxity, characteristic facial appearance, constant dislocations of elbows and knees. Bone-age was advanced and bones were slender and osteoporotic with metaphyseal thickening. All the cases appeared separately in normal families. These associated malformations resembled Larsen's syndrome, in spite of some different features.

Abnormalities, Multiple↗
PubMed1986

Acalvaria, holoprosencephaly, and facial dysmorphism syndrome.

An estimated 85-day-old human fetus exhibited a malformation complex consisting of holoprosencephaly, absent calvaria, exophthalmic hypertelorism, and severe bilateral midfacial orofacial clefting involving the maxillary/frontonasal prominences (oblique facial clefts), upper lip (bilateral clefts), and palate (complete cleft). This combination of dysplasias precludes assignment to previously described syndrome complexes. The presence of an olfactory nerve/ethmoidal bone complex does not conform with "classic holoprosencephaly," nor does acalvaria without cerebral dysraphism fit into the cranioschisis and exencephaly syndromes. It is postulated that this combination of anomalies is due to faulty embryogenesis of the prechordal cephalic mesenchyme, leading to failure of telencephalic cleavage and of neural crest-mediated development of the calvaria and facial prominences.

Abnormalities, Multiple↗
PubMed1996

[The departmental concept in the therapy of facial dysmorphisms. A preliminary note on the psychological aspects].

The authors describe the work carried out with the intention of map and border in simple and repeatable way the risk of dissatisfaction in the patient candidates to cosmetic and oro-maxillo-facial surgery. It represent the first of a series of notes which propose to characterize patients with problems tied to the organization of the individuality in which, the discrepancy among expectations and obtained result, lead in the more serious cases, to a real crisis of identity or a depressed state of varied entity.

Craniofacial Abnormalities↗
PubMed2002

[Craniofacial anthropometric patterns in genetic facial dysmorphism: methodology and applications].

Craniofacial anthropometric has become an important tool in medical genetics. The method is simple, non-invasive, reliable, and inexpensive. To provide reliable measurements, the method must be conducted with a precise procedure by a trained physician. Anthropometric determination of craniofacial morphology is helpful in identifying and describing syndromes associated with classical techniques. Additional studies may involve new approaches to facial morphogenesis.

Adult↗
PubMed2005

Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

Syndromes with smooth muscle dysmotility are uncommon, and may be related either to smooth muscle myopathy, or to neuropathy. In most instances, neuropathic visceral dysmotility is an isolated finding leading to chronic intestinal pseudo-obstruction syndrome (CIPO). We report here on two sibs, born to consanguineous parents, with neuropathic visceral dysmotility and CNS anomalies. They share facial dysmorphia, neurogenic megacystis, intracerebral calcifications, and developmental delay. The elder one, a girl, has microcephaly and multicystic kidneys, and her brother has a more extensive neuropathic visceral disorder leading clinically to CIPO. CIPO associated with megacystis is relatively frequent but is rarely associated with mental retardation. The cases reported in the literature are different from those described here, clinically and histologically. A recessively inherited form of CIPO associated with widespread intra-cerebral calcifications, malabsorption is known as Cockel syndrome. Severity of Cockel syndrome, absence of urinary tract involvement and neuropathologic discrepancies allow distinction with the disorder reported here. In conclusion, the two siblings described here have facial dysmorphia, vesical and (in one of them) intestinal neurogenic dysmotility, intracerebral calcifications and developmental delay that could represent a specific, recessively inherited form of CIPO.

Calcinosis↗
PubMed2006

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.

High-resolution analyses of complex chromosome rearrangements (CCR) have demonstrated in individuals with abnormal phenotypes that not all seemingly balanced CCRs based on G-banding are completely balanced at breakpoint level. Here we report on an apparently balanced de novo CCR involving chromosomes 2, 3 and 5 present in a 6-month-old girl. She was referred for genetic evaluation because of severe psychomotor retardation, distinctive dysmorphic features and microcephaly. A 1Mb resolution array-CGH analysis of DNA from the patient revealed a deletion of about 6Mb for chromosome 2. FISH analysis showed that the deletion interval found in band 2q22 mapped at the translocation breakpoint, and that the ZFHX1B gene, which is known to be involved in the Mowat-Wilson syndrome, is located within the deletion interval. To our knowledge this is the first case of a complex chromosomal rearrangement associated with Mowat-Wilson syndrome. Our data illustrate the important role for high-resolution investigation of apparently balanced chromosome rearrangements in patients with unexplained psychomotor retardation and/or other clinical features, and should contribute to our understanding of the mechanisms involved in chromosome rearrangement.

Chromosome Breakage↗