[…] 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]
[…] 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]
[…] 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]
The patient also exhibited macrostomia (Fig. 1), macroglossia, and hepatomegaly.
[journals.lww.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]
It usually consists of pre auricular appendages, fistulae, hypoplastic or absent pinnae, anti-mongoloid slant, coloboma of the iris and lids, epibulbar dermoids, macrostomia
[indianpediatrics.net]
Macrostomia is often present. Abnormal development of the ears is another characteristic of Goldenhar syndrome.
[pediatriconcall.com]
[…] clinical examination baby had absent left pinna which was replaced by periauricular skin tags and appendages, atresia of the left external auditory canal, epibulbar dermoid, macrostomia
[indianpediatrics.net]
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]
CAS Article Google Scholar 6 Guion-Almeida ML, Richieri-Costa A : Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and
[nature.com]
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]
[…] with an ataxic gait if the patient is walking, paroxysm of inappropriate laughing, dysmorphic craniofacial features (brachycephaly, mid-facial hypoplasia, deep set eyes, macrostomia
[pesquisa.bvsalud.org]
The patient also exhibited macrostomia (Fig. 1), macroglossia, and hepatomegaly.
[journals.lww.com]
Simpson-Golabi-Behmel syndrome is characterized by: polyhydramnios neonatal recurrent hypoglycemia 6 facial deformities, including cleft lip and palate 9, macrostomia, macroglossia
[radiopaedia.org]
He shared similar dysmorphic features with his brother comprising coarse facial features, hypertelorism, broad nasal bridge, short nose, macrostomia, prominent jaw (fig 1)
[jmg.bmj.com]
[…] diagnosis of Fryns syndrome include a coarse face, wide-spaced eyes with cloudy corneas, a wide and flat nasal bridge with anteverted nares, anomalous and low-set ears, macrostomia
[ncbi.nlm.nih.gov]
Characteristic Features GPC3 GPC4 2 Simpson-Golabi-Behmel syndrome type 1 (SGBS1) XL Rare Overgrowth (pre- & postnatal), macrocephaly, dysmorphic features (coarse facies, macrostomia
[ncbi.nlm.nih.gov]
[…] features in individuals with PIGN pathogenic variants have been described as coarse with wide-spaced eyes, a small nose, flat nasal bridge, anteverted nares, a long philtrum, macrostomia
[ncbi.nlm.nih.gov]
Two other genes also are known to cause Treacher Collins syndrome: POLR1C and POLR1D 3. dental and mandibular retrognathia micrognathia macrostomia hypoplasia or aplasia of
[radiopaedia.org]
[…] lid,narrowing of the external ears and malformation of the middle ear ossicles which may lead to deafness,hypoplasia of the mandible (macrognathia) and cleft palate and macrostomia
[genecards.org]
It is characterized mainly by fishlike facies with receding chin, downward sloping palpebral fissures, colobomas of the eyelids, macrostomia, dysplastic ears, and other anomalies
[icd10data.com]
[…] 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]
[…] 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]
Ablepharon macrostomia syndrome 0 *Abnormalities, Multiple *Eye Abnormalities *Macrostomia.
[reference.md]
49,XXXXX Syndrome 5-Nucleotidase Syndrome 7p2 Monosomy Syndrome Aagenaes syndrome Aarskog syndrome + Aase Smith Syndrome Abderhalden-Kaufmann-Lignac Syndrome ablepharon macrostomia
[rgd.mcw.edu]
[…] duplication syndrome 8p23.1 duplication syndrome 8q12 microduplication syndrome Aagenaes syndrome Aarskog syndrome Abdominal aortic aneurysm Abetalipoproteinemia Ablepharon macrostomia
[rarediseases.info.nih.gov]
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]
Tall stature, macrostomia, and delayed eruption of teeth.
[accessanesthesiology.mhmedical.com]
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]
[…] medial epicanthic folds (a fold of skin over the inner aspect of the eyes) squint low-set ears broad nasal bridge short philtrum (the area between the nose and upper lip) macrostomia
[contact.org.uk]
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]
Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia,
[typeset.io]
Brachycephaly, broad notched nasal tip, cleft lip/palate, and macrostomia. Polysyndactyly, camptodactyly, and hypoplasia of the distal phalanges of the hands.
[accessanesthesiology.mhmedical.com]
Developmental delay/intellectual disability 12 (100%) 15 (100%) Digital anomalies: 10 (83%) 6 (40%) -of which short IV metatarsus 4 (33%) 0 Ear anomalies 9 (75%) 13 (87%) Macrostomia
[ojrd.biomedcentral.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]
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]
Retardation Syndromes Moderate to severe mental retardation, short stature, mild obesity, hypogonadism, low total finger ridge count, and distinctive narrow facies marked by macrostomia
[doctor.am]
[…] distinctive face characterized by bitemporal narrowness, almond-shaped palpebral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia
[omim.org]
49,XXXXX Syndrome 5-Nucleotidase Syndrome 7p2 Monosomy Syndrome Aagenaes syndrome Aarskog syndrome + Aase Smith Syndrome Abderhalden-Kaufmann-Lignac Syndrome ablepharon macrostomia
[rgd.mcw.edu]
Mandibuloacral dysplasia Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy Mandibulofacial dysostosis-macroblepharon-macrostomia
[se-atlas.de]
[…] del, TGFBR2+del, MLH3 Lysosomal glycogen storage disease without acid maltase deficiency, formerly LAMP2+del Krankheit Gen Macrocephaly/autism syndrome (MCEPHAS) PTEN+del Macrostomia
[uniklinik-freiburg.de]
Basal cell nevus syndrome (BCNS) (Gorlin syndrome; Gorlin-Goltz syndrome) Holoprosencephaly-7 (HPE7) Medulloblastoma, somatic (MDB) PTCH2 Basal cell carcinoma, somatic (BCC) Macrostomia
[uniklinik-freiburg.de]
Radial defect Robin sequence Chordoma Tonoki syndrome Short limb dwarf lethal Colavita Kozlowski type Primary pigmented nodular adrenocortical disease DPM2-CDG Ablepharon macrostomia
[checkrare.com]
Definition: Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase ( IDURONIDASE ) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity[…]
[hon.ch]
Waldenström's macroglobulinemia (lymphoplasmacytic lymphoma) is a chronic lymphoproliferative disorder of indolent type that can manifest in life-threatening complications. The onset of WM is not specific for a typical clinical picture. In fact, in many patients, it is discovered through routine blood tests. Commonly[…]
[symptoma.com]
Entry H00574 Disease Name Coffin-Lowry syndrome Description Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs[…]
[genome.jp]
Williams syndrome definition and facts* *Williams syndrome definition and facts medical author: Charles Patrick Davis, MD, PhD Williams syndrome is a disorder in development that usually results in learning problems, attention deficit disorder, anxiety, and phobias but affected individuals have outgoing personalities. Sings[…]
[medicinenet.com]
Title Other Names: Brachymorphism-onychodysplasia-dysphalangism syndrome; Brachymorphism onychodysplasia dysphalangism syndrome Categories: BOD syndrome is a genetic condition characterized by underdeveloped “pinky” toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and[…]
[rarediseases.info.nih.gov]
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]
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]
