PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “facial dysmorphism”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 55 records · Page 3Linked to original sources
PubMed2003

A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

UNLABELLED: We report a 13-year-old female patient with multiple congenital abnormalities (microcephaly, facial dysmorphism, anteverted dysplastic ears and postaxial hexadactyly), mental retardation, and adipose-gigantism. Ultrasonography revealed no signs of a heart defect or renal abnormalities. She showed no speech development and suffered from a behavioural disorder. CNS abnormalities were excluded by cerebral MRI. Initial cytogenetic studies by Giemsa banding revealed an aberrant karyotype involving three chromosomes, t(2;4;11). By high resolution banding and multicolour fluoresence in-situ hybridisation (M-FISH, MCB), chromosome 1 was also found to be involved in the complex chromosomal aberrations, confirming the karyotype 46,XX,t(2;11;4).ish t(1;4;2;11)(q43;q21.1;p12-p13.1;p14.1). To the best of our knowledge no patient has been previously described with such a complex translocation involving 4 chromosomes. This case demonstrates that conventional chromosome banding techniques such as Giemsa banding are not always sufficient to characterise complex chromosomal abnormalities. Only by the additional utilisation of molecular cytogenetic techniques could the complexity of the present chromosomal rearrangements and the origin of the involved chromosomal material be detected. Further molecular genetic studies will be performed to clarify the chromosomal breakpoints potentially responsible for the observed clinical symptoms. CONCLUSION: This report demonstrates that multicolour-fluorescence in-situ hybridisation studies should be performed in patients with congenital abnormalities and suspected aberrant karyotypes in addition to conventional Giemsa banding.

Abnormalities, Multiple↗
PubMed1991

Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequence.

Two non-related patients, a boy and a girl, are described suffering from distal arthrogryposis and facial dysmorphism consisting of flat face, hypertelorism and telecanthus, small mouth with thin, downturned upper lip, micrognathia, cleft palate and simple, low-set, posteriorly angulated ears. Feeble fetal movements (case 2), polyhydramnion (case 1) and lung hypoplasia (case 2) were present. On follow-up, both children were severely developmentally retarded. These findings are consistent with the Fetal A/hypokinesia Deformation Sequence (FADS). Survival beyond the neonatal period in this heterogeneous condition seems to be rare. Clinical descriptions of infants with FADS surviving the neonatal period are most important in order to delineate clinically recognizable entities; it may help to disclose pathogenetic basic mechanisms.

Abnormalities, Multiple↗
PubMed2006

A case report of a patient with microcephaly, facial dysmorphism, mitomycin-c-sensitive lymphocytes, and susceptibility to lymphoma.

We report on a 17-year-old boy with a unique lymphocyte mitomycin-C (MMC)-sensitive chromosomal breakage syndrome. He had failure to thrive, and has microcephaly, slight facial dysmorphism, and constitutional short stature but no other phenotypic or hematological manifestations of Fanconi anemia (FA). He developed B-cell lymphoma of the neck, which was treated with standard doses of alkylating agents. Major side effects related to chemotherapy did not occur. Normal erythrocyte corpuscular volume, MMC-insensitive fibroblasts, and the occurrence of lymphoma rather than AML sets this patient apart from typical FA. The combination of constitutional dwarfism, microcephaly, MMC-sensitive lymphocytes, and susceptibility to lymphoma represents an unusual constellation of symptoms among genetic disorders.

Adolescent↗
PubMed2006

Multiple cutaneous granular cell tumors, joint hypermobility and mild facial dysmorphism in a child.

BACKGROUND: The association of multiple cutaneous granular tumors with systemic defects is extremely rare. To date, 14 cases have been described. CASE REPORT: A 14-year-old boy presented multiple nodular lesions on his arms and legs; facial dysmorphism and joint hypermobility were also present. Histopathologic examination of two nodules showed granular cell tumors. We review the literature regarding multiple granular cell cutaneous tumors in children with associated somatic defects and genetic syndromes. CONCLUSIONS: The combination of multiple cutaneous granular tumors with alterations in other organs is not only fortuitous, justifying the proposal of a distinct syndrome, termed "Bakos's syndrome" after the author who first described this association. The relation with neurofibromatosis type 1 is discussed, and an association is suggested with the range of variants of this syndrome.

Adolescent↗
PubMed1989

Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sister.

We report a brother and sister born to non-consanguineous parents. They both had an atrial septal defect and ventricular septal defect. In addition they had short stature, microcephaly, developmental delay, and the same dysmorphic facial appearance of a short nose, epicanthic folds, a long philtrum, and narrow upper lip. The boy had bilateral choanal hypoplasia and stenosis.

Abnormalities, Multiple↗
PubMedDate not supplied

Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis.

A 3-year-old girl had severe intractable diarrhea with trichorrhexis nodosa and cirrhosis. This patient was referred to the pediatric dermatology clinic for lifelong brittle hair. The brittle hair microscopically demonstrated trichorrhexis nodosa. The girl also had facial dysmorphism, with a prominent forehead and cheeks, broad flat nose, and hypertelorism. She had a history of severe intractable diarrhea since 2 weeks of age and failure to thrive requiring lifelong total parenteral nutrition (TPN). Hepatomegaly was noted and prompted liver biopsy which demonstrated cirrhosis. Mental retardation and developmental delay was also found upon examination. This child may be included in the syndrome of intractable infant diarrhea, an entity known in the gastroenterology literature but yet not reported in the dermatologic literature. Dermatologists should be aware of this syndrome in which trichorrhexis nodosa is commonly seen.

Child↗
PubMed2006

Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?

Here we describe the clinical, histopathological and molecular studies of a female proband that died at 2 months of age in the context of a syndromic polymicrogyria. There was no significant family history. Clinical and radiological features included poor contact, cleft palate, facial dysmorphic features with frontal bossing, down-slanting and small palpebral fissures, inferior epicanthic folds, low-set and malformed ears, flat nose, retrognathism and short neck, minor limb anomalies, polymicrogyria that appear more severe in the perisylvian regions and cerebellar vermis hypoplasia. Autopsy findings revealed a patent foramen ovale with persistent left superior vena cava, left renal hypoplasia and microphthalmia. This description does not fit with any of the known syndromes with polymicrogyria and cytogenetic analyses including standard and high resolution chromosome analyses, telomeric FISH studies and array-CGH were normal. Consequently, the reported features in this child are unique and are likely to represent a new syndrome.

Cerebellum↗
PubMed2003

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.

We describe a 59-year-old male (patient A059) with moderate to severe mental retardation (MR) and a pericentric inversion of the X-chromosome: inv(X)(p21.1;q22.1). He had short stature, pectus excavatum, general muscle wasting, and facial dysmorphism. Until now, no other patients with similar clinical features have been described in the literature. Molecular analysis of both breakpoints led to the identification of a novel "Nuclear RNA export factor" (NXF) gene cluster on Xq22.1. Within this cluster, the NXF5 gene was interrupted with subsequent loss of gene expression. Hence, mutation analysis of the NXF5 and its neighboring homologue, the NXF2 gene was performed in 45 men with various forms of syndromic X-linked MR (XLMR) and in 70 patients with nonspecific XLMR. In the NXF5 gene four nucleotide changes: one intronic, two silent, and one missense (K23E), were identified. In the NXF2 gene two changes (one intronic and one silent) were found. Although none of these changes were causative mutations, we propose that NXF5 is a good candidate gene for this syndromic form of XLMR, given the suspected role of NXF proteins is within mRNA export/transport in neurons. Therefore, mutation screening of the NXF gene family in phenotypically identical patients is recommended.

Abnormalities, Multiple↗
PubMed1999

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter.

We have identified a novel developmental disorder with complex phenotypic characteristics involving primarily the nervous system, which appears to be common in a specific Gypsy group in Bulgaria. We propose to refer to the syndrome as congenital cataracts facial dysmorphism neuropathy (CCFDN). We have assigned the disease locus to the telomeric region of chromosome 18q. Linkage disequilibrium and highly conserved haplotypes suggest genetic homogeneity and founder effect. CCFDN co-localises with an EST which shows high homology to a conserved Drosophila gene involved in the regulation of nervous system development in vertebrates.

Adolescent↗
PubMed2026

Facial Dysmorphism and Severe Vascular Phenotype in TRNT1 Deficiency with Concomitant Antithrombin III Deficiency.

TRNT1 deficiency (SIFD syndrome) is a rare inborn error of immunity characterized by sideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay. We report two Romanian patients with genetically confirmed TRNT1 deficiency presenting with characteristic hematologic and immunologic abnormalities and a distinctive facial dysmorphism. One patient additionally developed severe gastrointestinal ischemia and intracranial hemorrhage in the setting of concomitant hereditary antithrombin III deficiency. These observations expand the phenotypic spectrum associated with TRNT1 deficiency and highlight the marked clinical variability of this disorder. The contribution of TRNT1-associated inflammation to the vascular phenotype remains speculative and cannot be distinguished from the effects of the concomitant thrombophilic condition.

Humans↗
PubMed1999

A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.

Rud syndrome formerly was considered as a genetically heterogeneous but distinct clinical entity with the manifestations of ichtyosis, hypogonadism, small stature, mental retardation, epilepsy and, infrequently, retinitis pigmentosa. The existence of such a syndrome has recently been dismissed based on a new understanding of the ichthyoses. We report on the clinical history of a 14-year-old boy with congenital ichthyosis, small stature, hypogonadism, facial dysmorphism, nystagmus, kypho-scoliosis and myogenic dystrophy. He was diagnosed as Rud syndrome but developed neither seizures nor mental retardation. However a cousin was mentally retarded. The ichthyosis was familial as five relatives had ichthyosis but no other features of Rud syndrome. The patient had a deletion of the steroid-sulfatase gene. He had neither chondrodysplasia punctata, nor Kallmann syndrome, two conditions which are part of the contiguous gene syndrome of the Xp22.3 region. Most case reports previously reported as Rud syndrome can now be reassigned under a contemporary ichthyosis classification that does not include Rud syndrome as a distinct entity. This case was clearly distinct from Refsum disease, Sjögren-Larsson syndrome and any of the other ichthyosis disorders that have been suggested as a replacement for Rud syndrome. Thus the case reported here appears distinct from any previously described, currently recognized syndrome.

Abnormalities, Multiple↗
PubMed1984

[Psychologic and psychiatric environment in the correction of facial dysmorphism].

Stomatologists well know that phenotype can reproduce a lot of abnormal genotype aspects, in facial growth. These vitiations are bound to abnormal behaviours during such functions as: deglutition, breathing, oral expression. It is important to know if "wrong para-functions" adopted in such praxies are psychologically significant. Very often, the psychiatrist only, will be able to confirm or oppose contra-indication about the surgical treatment of facial abnormalities in such special cases, known or unknown.

Adolescent↗
PubMed1984

Anthropometric definitions of dysmorphic facial signs.

A photoanthropometric method is presented, which enables an objective definition of facial structures. It may support the clinical description of patients with dysmorphic syndromes. Eighteen parameters were studied. The measuring points were elected on the base of anthropological criteria. The measurements were related to reference values in the same face. The obtained indices were compared to an age related control group of 100 normal children between 0 and 12 years. Values below the 3rd and above the 97th percentile were considered as dysmorphisms. The results give information on the frequency and age dependency of different dysmorphic signs.

Age Factors↗
PubMed1999

Cranio-facial dysmorphism: experimental study in the mouse, clinical applications.

To obtain a better understanding of mandibulo-facial dysostosis and hemicraniofacial microsomia in man, the authors carried out a histologic and scanning electron microscope study of the facial malformations produced in mouse embryos by retinoic acid and methyl-triazene. The administration of 400 mg/kg 13 cis-retinoic acid (RA) to pregnant C57BL mice on day 9 of gestation produced anomalies of the cephalic extremity in the embryos resembling human mandibulo-facial dysostosis. The 64 embryos collected presented hypoplasia of the branchial arches or the snout in 79% of cases, auricular anomalies in 47% and ophthalmic anomalies in 12.5%. Fourteen NMRI mice on day 10.5 of gestation were treated with 1.5 mg (0.5 mg/kg) methyl-triazene (Methyl). The 126 embryos collected had developed a very high percentage of micromandibles and anomalies of both embryonic ears (94.6% to 100%). Finally, although the facial anomalies produced by retinoic acid resemble the human mandibulo-facial dysostosis syndrome, no correlation was found between hemicraniofacial microsomia and the administration of methyl-triazene.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

[Facial dysmorphism related to valproic acid ingestion during pregnancy].

The authors report a case of cranio-facial changes in a neonate who had been exposed to Valproate. Clinical picture consisted of hypoplastic fronto-orbital edges and microstomia. These abnormalities are compared with the series reported in the literature.

Abnormalities, Drug-Induced↗