hernias, hypospadias, cryptorchidism, hypotonia and other dysmorphic features including a large anterior fontanel, strabismus, malformed pinnae, broad nasal bridge and wide smooth philtrum. [ashg.org]

There is no family history of epilepsy or any other neurological condition. She was born at term by natural delivery weighing 2.9 kg (10th percentile). Considering her height, she consistently remained below the 25th percentile. [karger.com]

Clinical features included profound psychomotor delay, growth failure, feeding difficulties, microcephaly, atrial septal defect, ventricular septal defect, small hands and feet, bilateral single transverse palmar creases, partial syndactyly of 3rd and [ashg.org]

As a matter of fact, the differential diagnosis between DP and diffuse neurofibroma located in the head and neck raises particular problems for the pathologist [3, 17]. [kundoc.com]

Because of frequent aspiration she became oxygen dependent. She later developed intractable convulsions and died at the age of 9 months. [adc.bmj.com]

Spicules were not present on the aspirate or touch preparation. Flow cytometry showed a myeloid immunophenotype, with the presence of an intermediate to large sized myeloid blast cell population ( Figure 5 ). [hoajonline.com]

Abstract A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. [adc.bmj.com]

Investigators indicate that others with ring chromosome 4 may have few symptoms and be primarily affected by growth delays (failure to thrive), with no major physical anomalies. [rarediseases.org]

Failure to thrive, feeding difficulties, seizures and decreased spontaneous activity are often seen. Death usually occurs in infancy and childhood. [en.wikipedia.org]

They showed a phenotype consistent with the “ring syndrome” with failure to thrive, minor dysmporphic features and no major anomalies. [tp.amegroups.com]

[…] abnormalities, not elsewhere classified Q99.0 Chimera 46, XX/46, XY Q99.1 46, XX true hermaphrodite Q99.2 Fragile X chromosome Q99.8 Other specified chromosome abnormalities Q99.9 Chromosomal abnormality, unspecified R00 Abnormalities of heart beat R00.0 Tachycardia [icd10data.com]

She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. [adc.bmj.com]

Case Report A 71 years elderly was presented with a history of weakness/fatigability/exertional breathlessness/fever/jaundice/progressive pallor/wet purpura/petechial spots without lymphadenopathy/hepatosplenomegaly/any co-morbidity. [cancerjournal.net]

Fundoscopy revealed well-defined white foveal flecks at the level of retinal pigment epithelium in both eyes ( Figure 1 ). [nature.com]

Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities (cataract, retinal pigmentation, macular abnormality) occur. [epilepsydiagnosis.org]

Ring chromosome 14 The r(Jeny14) syndrome is characterized by a recognizable phenotype, consisting of distinct facial features, developmental delay, mental retardation, microcephaly, scoliosis and ocular anomalies that include abnormal retinal pigmentation [tp.amegroups.com]

There were no signs of dysmorphism or any skin lesions. CT scan of the head showed no definite abnormalities. No family history of seizures or visual problems were reported. Ocular examination at the age of 16 years revealed VA of 6/6 in both eyes. [nature.com]

Novel Insights • The reported phenotype includes growth delay, intellectual disability, seizures, café-au-lait skin lesions, minor dysmorphism, and a flecked retina. [karger.com]

XX, -7 [1]/ 46, XX [2] [lymphocytes] chronic myelomonocytic leukemia, growth & developmental delay, skin lesion p22 q36 5 year-old patient R(7): double ring chr. 7; Amouri et al., ESHG, 2005, #P0306 Edit 18 16737917 47, XX, r(7)(p22q36). ish(wcp7 , [chr7.org]

Features of r(Jeny7) not apparent in this patient include mental retardation, facial asymmetry, limb and skeletal anomalies and skin lesions; haploinsufficiency of genes proximal to the subtelomeric regions were considered critical to the more severe [tp.amegroups.com]

Clinical features included profound psychomotor delay, growth failure, feeding difficulties, microcephaly, atrial septal defect, ventricular septal defect, small hands and feet, bilateral single transverse palmar creases, partial syndactyly of 3rd and [ashg.org]

fifth fingers with a mild degree of clinicodactyly, multiple café-aui-lait spots, and abnormal dermatoglyphics. [ncbi.nlm.nih.gov]

nasal bridge and wide smooth philtrum. [ashg.org]

nasal bridge and other facial dysmorphism. [epilepsydiagnosis.org]

anterior fontanel, strabismus, malformed pinnae, broad nasal bridge and wide smooth philtrum. [ashg.org]

She later developed intractable convulsions and died at the age of 9 months. [adc.bmj.com]

Epilepsy has been reported in 46% of these individuals but was never characterized, except in one child with generalized tonic-clonic convulsive status [Elhassanien and Alghaiaty, 2013; Prasad et al., 2013]. [karger.com]

People with R20 seem particularly prone to episodes of non-convulsive status epilepticus (NCSE). This is when there is continuous abnormal electrical activity from the brain – which can be easily seen during an EEG. [epilepsy.org.uk]

The second child had prolonged convulsions and when assessed at 39 months was found to be at an 18 month development level. [tp.amegroups.com]

Elhassanien AF, Alghaiaty HA: Neurological manifestations associated in children with Sanjad-Sakati Syndrome. Int J Gen Med 6:393-398 (2013). [karger.com]

Complex partial seizures were characterized by sudden arrest of activity, staring gaze, hand wringing and lip smacking usually brief lasting 1-2 min but associated with significant postictal tiredness. [karger.com]

Subtle nocturnal behavioral changes such as stretching, rubbing, turning that resemble arousal, subtle nocturnal seizures (SNS), and subtle nocturnal frontal lobe seizures (SNFL) have also been reported in studies of RC20 patients. [epilepsy.com]

Minassian First published January 14, 2016, DOI: A previously healthy 16-year-old girl of Jamaican descent presented with a 1-year history of progressive daytime somnolence, sleep attacks (sudden irresistible episodes of sleep), and paroxysms of altered [ng.neurology.org]