[…] downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares, small, posteriorly rotated ears, a long, smooth philtrum, a thin upper lip, striking macrostomia
[ncbi.nlm.nih.gov]
[…] characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia
[ncbi.nlm.nih.gov]
[…] outward and downward with notches or colobomas in the outer third of the lower lids, bony defects or hypoplasia of malar and zygomatic bones, hypoplasia of the mandible, macrostomia
[medical-dictionary.thefreedictionary.com]
SGBS type 2. [1] [2] People with SGBS typically have distinctive facial features, including a large distance between the eyes ( hypertelorism ), an unusually wide mouth ( macrostomia
[rarediseases.info.nih.gov]
broad great toes, overlapping second and third toes pCME3(Belgium) / / Pre- and postnatal overgrowth, macrocephaly, macrostomia, mild mental retardation OG004(The Netherlands
[doi.org]
Simpson Golabi Behmel Syndrome (SGBS) is an X-linked overgrowth syndrome with coarse craniofacial features that include hypertelorism, epicanthal folds, macrostomia, macroglossia
[oxfordmedicine.com]
[…] preauricular appendages, preauricular fistulas, ear asymmetry, microtia, atresia of the external auditory canal), craniofacial deformities (cleft face, cleft lip, cleft palate, macrostomia
[ncbi.nlm.nih.gov]
Fig. 8: Convergent strabismus, matted eye lashes, macrostomia, and pyoderma.
[healio.com]
[…] ear anomalies Craniofacial defects: unilateral facial hypoplasia; prominent forehead; hypoplasia of the zygomatic arch; maxillary and mandibular hypoplasia and unilateral macrostomia
[ajnr.org]
Most patients of this age group show at least 8 of the major characteristics (bursts of laughter, happy disposition, hyperactive behaviour, microcephaly, brachycephaly, macrostomia
[ncbi.nlm.nih.gov]
Moreover, she had facial dysmorphic features such as microbrachycephaly, mid-facial hypoplasia, macrostomia and prominent mandible.
[ncbi.nlm.nih.gov]
Generally from 1 year of age, the typical features of AS develop: severe intellectual deficit, absent speech, outbursts of laughter with hand flapping, microcephaly, macrostomia
[orpha.net]
Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…]
[ncbi.nlm.nih.gov]
Classification D ICD-10: Q18.3 ICD-9-CM: 744.5 DiseasesDB: 29611 v t e Congenital malformations and deformations of face and neck (Q18, 744.4–744.9) Face jaw: Otocephaly mouth: Macrostomia
[en.wikipedia.org]
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype.
[ncbi.nlm.nih.gov]
Guion-Almeida ML, Richieri-Costa A : Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies:
[doi.org]
[…] syndrome are caused by ACTB mutations rather than ACTG1 mutations Di Donato, N; Rump, A; Koenig, R Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia
[deepdyve.com]
Mental retardation, macrostomia and hyperpnoea syndrome. J Paediatr Child Health 1993; 29 (2) 156-157 3 Van Balkom ID, Quartel S, Hennekam RC.
[doi.org]
PubMed Google Scholar Singh HA: Mental retardation, macrostomia and hyperpnoea syndrome. J Paediatr Child Health. 1993, 29: 156-157. 10.1111/j.1440-1754.1993.tb00472.x.
[ijponline.net]
Singh HA (1993) Mental retardation, macrostomia and hyperpnoea syndrome. J Paediatr Child Health 29:156–157 [ PubMed ] [ Google Scholar ] 5.
[ncbi.nlm.nih.gov]
Although the clinical course of lymphoplasmacytic lymphoma (LPL)/Waldenström macroglobulinemia (WM) is usually indolent, high-grade non-Hodgkin lymphoma may develop in a small subset of patients. We have not found any patients with LPL/WM associated with Hodgkin disease (HD) described in the literature, prompting us[…]
[ncbi.nlm.nih.gov]
Two unrelated patients with Coffin-Lowry syndrome are described. The main characteristics of a typical face, thick hands with tapering fingers and a transverse hypothenar crease, general hypotonia with extensible joints made diagnosis possible before the age of 6 months. A persistent large anterior fontanel[…]
[ncbi.nlm.nih.gov]
[…] syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia
[ncbi.nlm.nih.gov]
[…] becomes more pronounced with age), prominent forehead, hypertelorism, upslanting palpebral fissures with epicanthal folds, small nose with upturned nares, high arched palate, macrostomia
[molecularcytogenetics.biomedcentral.com]
Williams syndrome (Williams–Beuren syndrome) is a rare neurodevelopmental disorder characterized by mental retardation, hypercalcemia of infants, heart defects, characteristic facial features ("elfin" facial appearance) and failure to thrive. It is caused by a deletion on chromosome 7. The clinical features of Williams[…]
[symptoma.com]
16 cases 93395 Coloboma of macula - brachydactyly type B 12 cases52994 Orofaciodigital syndrome type 4 16 cases 1471 Congenital atransferrinemia 12 cases2753 Ablepharon macrostomia
[fliphtml5.com]
Decaudain-Vigouroux 9 cases 210571 Ehlers-Danlos syndrome, dermatosparaxis type 7 cases137871 Lenz-Majewski hyperostotic dwarfism 9 cases 1901 Episodic ataxia type 5 7 cases2658 Macrostomia
[fliphtml5.com]
[…] tri·so·my 20 syn·drome a chromosomal disorder characterized by profound mental retardation, coarse facies, macrostomia and macroglossia, minor anomalies of the ears, pigmentary
[medical-dictionary.thefreedictionary.com]
[…] of the skin, dorsal kyphoscoliosis, and other skeletal defects. tri·so·my 20 syn·drome a chromosomal disorder characterized by profound mental retardation, coarse facies, macrostomia
[medical-dictionary.thefreedictionary.com]
[…] kyphoscoliosis, and other skeletal defects. tri·so·my 20 syn·drome ( trīsō-mē sindrōm ) Chromosomal disorder characterized by profound mental retardation, coarse facies, macrostomia
[medical-dictionary.thefreedictionary.com]
We report two sisters with growth failure, relative microcephaly, peculiar facies and apical dystrophy (brachydactyly type B). They had shortness and clinodactyly of the 5th fingers, aplasia or hypoplasia of the distal phalanges of 5th fingers, short medial phalanges of the 2nd and 5th fingers, hypoplasia or aplasia[…]
[ncbi.nlm.nih.gov]
Some of the clinical characteristics became more evident such as long face, macrostomia, and scoliosis.
[ncbi.nlm.nih.gov]
[…] reduced muscle tone) certain facial characteristics: - rounded face - hypertelorism (widely spaced eyes) with downward slant to the eyes - low-set ears - broad nasal bridge - macrostomia
[contact.org.uk]
To present the prenatal findings and molecular cytogenetic analyses of partial trisomy 12q and partial monosomy 21q, and a review of the literature. Amniocentesis was performed at 23 gestational weeks in a 33-year-old woman because of abnormal sonographic findings. Amniocentesis revealed a derivative chromosome 21,[…]
[ncbi.nlm.nih.gov]
Immunoglobulin (Ig) A deficiency has long been recognized in patients with chromosome 18 abnormalities. We present the case of a young girl in whom a chromosome 18p deletion syndrome (46,XX,del[18][p11.1]) was associated not only with IgA deficiency, but also with an inability to make antibody to the unconjugated[…]
[ncbi.nlm.nih.gov]
High, prominent forehead; wide face in infancy; fleshy, everted lower lip; long and poorly defined philtrum with marked macrostomia and gingival hypertrophy; low nasal bridge
[accessanesthesiology.mhmedical.com]
Orofacial soft tissues – Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia
[en.wikipedia.org]
[…] of the mouth, and it is still rarer to see cases of isolated bilateral macrostomia.
[parjournal.net]
Here we report a case of bilateral macrostomia (bilateral lip cleft) in a 5-year-old girl as a sole entity without other skeletal and facial deformities.
[casereports.bmj.com]
Five years after bilateral macrostomia correction. Figure 6. Two-years after correction of bilateral macrostomia.
[rbcp.org.br]
A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say
[documents.mx]
Barber Say syndrome 0 *Eyelid Diseases *Hirsutism *Hypertelorism *Hypertrichosis *Macrostomia *Skin Abnormalities. Midphalangeal hair 0 *Hypertrichosis.
[reference.md]
Disability-Seizures-Macrocephaly-Obesity Syndrome KBG Syndrome Langer-Giedion Syndrome Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
[familydiagnosis.com]
Sometimes, Anotia can be found along with certain congenital diseases such as: Goldenhar Syndrome, Treacher-Collins Syndrome and Ablepharon-macrostomia Syndrome.
[epainassist.com]
In many cases, it occurs as an associated condition of certain congenital diseases such as: Treacher-Collins Syndrome Goldenhar Syndrome Ablepharon-macrostomia Syndrome Anotia
[hxbenefit.com]
[…] glossoptosis, and cleft palate Treacher Collins syndrome : hypoplasia of facial bones, especially malar and mandibular bones, malformation of external, middle, and internal ear, macrostomia
[radiopaedia.org]
Mouth: macrostomia, cleft lip and/or cleft palate (10%), soft palate malfunction, agenesis of the parotid, tracheo-oesophageal fistula.
[patient.info]
It is characterized by (a) dental and mandibular deformities such as retrognathia, micrognathia, and macrostomia, (b) malformed or underdeveloped zygomatic arch, (c) otic
[wajradiology.org]
[…] wide palpebral fissures with multiple eyelid colobomas, a broad and high nasal root, an absent nasal tip, a wide columella, a long and smooth philtrum, a carp-like mouth, macrostomia
[ncbi.nlm.nih.gov]
Frontonasal dysplasia may be syndromic, occurring in association with other malformations, such as tetralogy of Fallot, absence of the tibia, ear anomalies, macrostomia, and
[orpha.net]
Systemic Features: Other facial malformations include macrostomia which may be secondary to aberrant lip fusion. Micrognathia has been described.
[disorders.eyes.arizona.edu]
A new form of mandibulofacial dysostosis with macroblepharon and macrostomia. Clin Dysmorphol 1997 ; 6 : 21 –4.
[jmg.bmj.com]
On examination, dyscephaly with frontal bossing, mild malar and mandibular hypoplasia, hypertelorism, broad nasal root, down-slanting palpebral fissures, macrostomia, low
[jomfp.in]
Commonly, microtia is found in patients with hemifacial microsomia, Treacher Collins syndrome, facial asymmetry, epibulbar dermoids, malocclusion, facial nerve weakness and macrostomia
[ufhealth.org]
Obvious bony and soft-tissue deficit 36.5%, Family perceives it as “significant” 49.4% Overt facial nerve weakness 15.2% Of these, more than one branch involved 42.6% Macrostomia
[slideshare.net]
[…] craniofacial microsomia” (first and second branchial arch syndrome) defects of the external and middle ear; hypoplasia of the mandible, maxilla, zyogomatic, and temporal bones; macrostomia
[slideshare.net]
Orofacial soft tissues – Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia
[en.wikipedia.org]
Ablepharon Macrostomia Syndrome Ablepharon Macrostomia Syndrome. This page is dedicated to Ablepharon Macrostomia Syndrome or AMS. 3.
[www5.geometry.net]
Mandibuloacral dysplasia Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy Mandibulofacial dysostosis-macroblepharon-macrostomia
[se-atlas.de]
NORD Ablepharon Macrostomia Syndrome NORD Ablepharon Macrostomia Syndrome.
[www5.geometry.net]
Orofacial soft tissues – Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia
[en.wikipedia.org]
