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Chromosome 19q13.11 Deletion Syndrome
habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties.[diseaseinfosearch.org]
From the first (7 month old) to her last examination (23 years old) she always presented slender habitus, she was very thin with very little subcutaneous fat tissue.[link.springer.com]
Proband at the age of 6 years and 7 months, showing (a) slender habitus with little subcutaneous fat and scars from the surgery for inguinal hernias; (b) cutis aplasia in[molecularcytogenetics.biomedcentral.com]
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Aplasia Cutis - Myopia Syndrome
From the first (7 month old) to her last examination (23 years old) she always presented slender habitus, she was very thin with very little subcutaneous fat tissue.[molecularcytogenetics.biomedcentral.com]
habitus with little subcutaneous fat, facial dysmorphic features, signs of ectodermal dysplasia, cutis aplasia and feeding problems.[molecularcytogenetics.biomedcentral.com]
habitus, feeding difficulties, cutis aplasia over the posterior occiput, signs of ectodermal dysplasia, and genital malformation in males (hypospadias).[molecularcytogenetics.biomedcentral.com]
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Bethlem Myopathy
She had a thin slender habitus, with severe contractures at the shoulders, elbows, hips, knees, ankles, and spine.[neurologyindia.com]
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Marshall-Smith Syndrome
Slender habitus, dolichostenomielia, large hands and fingers and moderate joint hyperextensibility were also noted ( Figure 3d ).[nature.com]
However, the most striking feature in both patients was a marfanoid habitus, with long and slender morphotype, a very low BMI, long narrow face, and arachnodactyly.[nature.com]
She showed slender habitus, with dolichostenomielia, arachnodactily, large hands and fingers, triangular face with wide forehead, prominent mandible, small mouth, scoliosis[nature.com]
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Homocystinuria
Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence[fpnotebook.com]
Clinical features include a tall slender habitus, scoliosis, arachnodactyly, muscle weakness, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence[icd10data.com]
Pregnancy Or Perinatal History Usually normal Current And Past Medical History Individuals may present with a tall slender habitus and developmental delay/intellectual disability[medicalhomeportal.org]
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Diaphyseal Medullary Stenosis - Bone Malignancy Syndrome
SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety. [ read more ] 20673863[nectarmutation.org]
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Sotos Syndrome
SOTOS2 patients have macrocephaly, long narrow face, high forehead, slender habitus, scoliosis, and unusual behavior characterized especially by anxiety.[uniprot.org]
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Alternating Hemiplegia of Childhood
habitus.[ncbi.nlm.nih.gov]
[…] patients shared a similar physical phenotype consisting of hypotonia, long face, thin eyebrows, strabismus, hypertelorism, long palpebral fissures, downturned mouth, and slender[ncbi.nlm.nih.gov]
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Cornelia De Lange Syndrome
[…] of isochromosome 18p, namely microstomia, prominent upper lip, pinched nose, asymmetric long face, long and narrow fingers/toes, clenched hand/camptodactyly, spasticity, slender[jmg.bmj.com]
habitus, and scoliosis were not observed in patient 1. 18 Differences in either parental origin or mechanism of formation of the isochromosomes may provide a molecular explanation[jmg.bmj.com]
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Anonychia - Onychodystrophy Syndrome
habitus and extremities).[mendelian.co]
[…] nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender[mendelian.co]