susceptibility to infections and associated immunological defects have not been clearly described. 3-6 The World Health Organisation classification of primary immunodeficiency disease 7 lists trisomy 21 (Down’s syndrome), deletions or rings of chromosome [adc.bmj.com]

Puberty 148 XLMRHypotonic Facies Syndrome 27 Pseudohypoparathyroidism 149 [books.google.com]

Antimongoloid slant, prominent and broad nasal bridge, large saccular low set ears, high arched palate, micrognathia, and cryptorchidism were noted, but there was no anaemia, jaundice, skin eruption, purpura, lymphadenopathy, or hepatosplenomegaly. [adc.bmj.com]

Article / Publication Details First-Page Preview Abstract In the lymphocytes of a girl with microcephalia, hypertelorism, antimongoloid palpebral slant, bilateral cataract, severe dental caries, systolic murmur, back-rotation of kidneys and severe psychomotoric [karger.com]

She had normal stature, head circumference, and deep tendon reflexes ( Figure 1 ). Hearing screen, electrocardiography, echocardiography, abdominal ultrasound and ophthalmologic examination were normal. [omicsonline.org]

Antimongoloid slant, prominent and broad nasal bridge, large saccular low set ears, high arched palate, micrognathia, and cryptorchidism were noted, but there was no anaemia, jaundice, skin eruption, purpura, lymphadenopathy, or hepatosplenomegaly. [adc.bmj.com]

Dystonia associated with chromosomal abnormalities is typically attributed to chromosomal deletions. [ncbi.nlm.nih.gov]

[…] syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21. ( 16155419 ) Crombez E.A....Rao N. 2005 16 Dilated ascending aorta in a child with ring chromosome 21 syndrome. ( 15372526 ) Rope A.F....Saal H.M. 2004 17 Dystonia [malacards.org]

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]