The Vietnamese mother was 23 at delivery, and the Taiwanese father was in his 40 s. [molecularcytogenetics.biomedcentral.com]

distress * Small penis * Growth retardation * Mental retardation * Feeding difficulty * Failure to thrive Causes - Chromosome 7 ring syndrome Not supplied. [checkorphan.org]

Methods Patient and Clinical examination A female child with microcephaly (Figure 1 A and 1B, pictures taken at one year and 10 months of age) and respiratory distress was referred to the genetic counselling at the department of Pediatrics at Tzu Chi [molecularcytogenetics.biomedcentral.com]

distress syndrome ADULT syndrome Aicardi syndrome Aicardi-Goutieres syndrome Akaba Hayasaka Syndrome Akesson Syndrome akinetic mutism Aksu von Stockhausen Syndrome Al Awadi Syndrome Al Gazali Aziz Salem Syndrome Al Gazali Hirschsprung Syndrome Al Gazali [rgd.mcw.edu]

[…] to thrive Causes - Chromosome 7 ring syndrome Not supplied. [checkorphan.org]

[…] to thrive Highly arched palate Bilateral hydronephrosis Delayed gross motor skills Mechanisms of ring formation [ edit ] By two DNA breaks, one in each arm of the same chromosome, followed by fusion of the proximal broken ends. [en.wikibooks.org]

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

This disease presents with isolated hepatosplenomegaly and thrombocytopenia with sinusoidal infiltration of liver and sinusal infiltration of spleen. [ncbi.nlm.nih.gov]

ptosis Dropping of one upper eyelid 0007687 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal [rarediseases.info.nih.gov]

Genital examination and menstrual history were also normal. Hearing and eyesight were normal. However MM6’s developmental milestones were severely delayed: she had speech delay and severe intellectual impairments. [slideshare.net]

[…] body height Small stature [ more ] 0004322 Small earlobe Small earlobes 0000385 Speech articulation difficulties 0009088 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Unilateral ptosis Dropping of one upper eyelid 0007687 Wide [rarediseases.info.nih.gov]

This association is possibly not fortuitous, particularly since most ring chromosome 7 patients reported to date have pigmented skin lesions. [ncbi.nlm.nih.gov]

However, patients with partial trisomy have speech difficulty as a distinguishing feature, while patients with partial monosomy have skin lesions as a cardinal feature. [ingentaconnect.com]

Clinical examination revealed a dysmorphic face, upward slanting palpebral fissures, broad nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hands and feet, and dark pigmented naevi over the abdomen, thorax and thigh (see Figures [slideshare.net]

nose Decreased length of nose Shortened nose [ more ] 0003196 Slender finger Narrow fingers Slender fingers thin fingers [ more ] 0001238 Ventriculomegaly 0002119 5%-29% of people have these symptoms Abnormal cerebellum morphology Abnormality of the [rarediseases.info.nih.gov]

Physical examination showed broad forehead, asymmetrical facial appearance, plagiocephaly and short nose with anteverted nostrils; extremities long and slender. [ssmc-tl.com]

Deep plantar creases * Café au lait spots * Pigmented nevi * Nevus flammeus * Fusion of cerebral hemispheres * Agenesis of olfactory bulb * Teterotopic Purkinje cells in cerebellar white matter * Brain atrophy * Brain hypomyelination * Convulsions * Quadriplegia [checkorphan.org]

Arslan M, Yis U, Vurucu S, Tunca Y, Unay B, et al. (2012) Ring chromosome 21 in the differential diagnosis of waddling gait. Brain Dev 34: 792-795. [omicsonline.org]