Discussion We report a case of ring chromosome 15 in an infant girl who died after a severe clinical course at the age of 33/4 months. A lethal course has not been reported among the 21 previous cases with this rare chromosomal disorder. [docslide.com.br]

In addition to postnatal growth delay, she had scant frontal hair, small eyes, hypertelorism, low-set of ears, flattened nasal bridge, anteverted nostrils, down-turned mouth, three café au lait spots, and delayed dentition. [ncbi.nlm.nih.gov]

External inspection revealed (Fig. 1): microcephaly (32cm, 5th centile is 34.2cm); high forehead, low-set, large, abnormally-shaped ears; short thumbs, cone-shaped fingers; short legs, plump feet with were held adducted and extend- ed. [docslide.com.br]

PMDD hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome size; no apparent loss of chromosome material; minimal instability of chromosome constitution; and parents with normal karyotype (2) 2 months/FMild hirsutism [edmcasereports.com]

Our patient, a Caucasoid Asian woman, presented with short stature, microcephaly, minor dysmorphic features, hyperextensible knees, generalized hirsutism, café-au-lait and small hypochromic spots spread over her face and the front of her chest and abdomen [jmedicalcasereports.biomedcentral.com]

Two unrelated girls presented with multiple disseminated, paired, small café-au-lait spots and hypopigmented macules, suggesting didymosis (twin spotting). [ncbi.nlm.nih.gov]

[…] hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome size; no apparent loss of chromosome material; minimal instability of chromosome constitution; and parents with normal karyotype (2) 2 months/FMild hirsutism, clitoromegaly [edmcasereports.com]

(1) 4 years/FHypothyroidism Cafe au lait spotMicrocephaly, short stature, and growth delayMinimally dysplastic featuresBehavioral disorders, mild retardation, PMDD hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome [edmcasereports.com]

The patient was referred to our Unit because of persistent thrombocytopenia and syndactyly, pes planus and a bilateral Babinski sign. The remainder of physical examination revealed curly hair, thin upper lip, broad nasal bridge and tip. [omicsonline.org]

(1) 4 years/FHypothyroidism Cafe au lait spotMicrocephaly, short stature, and growth delayMinimally dysplastic featuresBehavioral disorders, mild retardation, PMDD hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome [edmcasereports.com]

[…] binding protein - Changes transcription of many proteins - Huntington Disease -Clinical Features -Age dependent penetration, depending on repeat size - Mean age of onset is about 40 - Early signs and symptoms - Minor motor abnormalities - Clumsiness - Hyperreflexia [quizlet.com]

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]

(1) 4 years/FHypothyroidism Cafe au lait spotMicrocephaly, short stature, and growth delayMinimally dysplastic featuresBehavioral disorders, mild retardation, PMDD hyperreflexia, ankle clonus, and Babinski sign–46,XX,r(11)(p15q25); no variations in chromosome [edmcasereports.com]

الصفحة 358 - Ocular signs of cerebral involvement include the following: nystagmus, unilateral mydriasis, bilateral miosis with slow response to light, paralysis of accommodation, convergence, and 3rd, 4th, and 6th cranial nerve involvement. ‏ [books.google.com]

During the first year of treatment, the insulin-like growth factor I increased from subnormal 4.2 nmol/l to normal 13.8 nmol/l and the insulin-like growth factor binding protein 3 levels increased from 2.6 to 3.8 mg/l, whereas high binding protein 1 concentrations [ncbi.nlm.nih.gov]