Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation. [doi.org]

"Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation". J Med Genet. 24 (11): 715–6. doi : 10.1136/jmg.24.11.715. [en.wikipedia.org]

Subject: multiple congenital anomalies/mental retardation (MCA/MR) syndrome hypothyroidism blepharophimosis abnormal facies Ohdo syndrome Ohdo-like blepharophimosis syndrome [repositorio.unicamp.br]

He had abnormal facies, short stature, short fingers with interdigital webbing, a saddle type scrotum and mild mental retardation. [ncbi.nlm.nih.gov]

Scott Dagfinn Aarskog A familial syndrome combining short stature, abnormal facies, and genital and hand and foot abnormalities. [whonamedit.com]

facies, thymic hypoplasia, canopy anomaly of the palate (high-arched palate, rather than cleft palate), and hypocalcemia (or hypoparathyroidism). [ncbi.nlm.nih.gov]

The combination has been referred to collectively with the acronym CATCH 22 (cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, and hypocalcemia together with [quizlet.com]

[…] patients had the cardinal phenotypic features of 22q11.2 deletion syndrome, including cardiovascular malformations (conotruncal malformations and aortic arch anomalies), abnormal [ncbi.nlm.nih.gov]

The condition is rare, with autosomal recessive inheritance, and manifests abnormal facies, ocular changes (eg, cataracts, retinal degeneration, microcornea, optic atrophy [medlink.com]

Cerebro-oculo-facio-skeletal (COFS) syndrome was described by Pena and Shokeir as a combination of severe microcephaly and ocular abnormalities with characteristic facies [indianpediatrics.net]

Key points • Cerebro-oculo-facio-skeletal syndrome is rare, with autosomal recessive inheritance, and manifests abnormal facies, ocular changes (eg, cataracts, retinal degeneration [medlink.com]

Facies Female Humans Infant Infant, Newborn Intellectual Disability Karyotyping Learning Disorders Magnetic Resonance Imaging Male Neurofibromatoses Phenotype Case Reports [moh-it.pure.elsevier.com]

Cardiac defects in 50% Mental retardation, Microcephaly Most are stillborn or die in infancy Frequent seizures 85-90% de novo deletions abnormal facies. [slideplayer.com]

Leseprobe - 2008 Häufige Begriffe und Wortgruppen androgen aniridia arm of chromosome Autosomal baby balanced translocation Blood Group Chimaera cell line characteristic facies [books.google.de]

[…] specially if associated with abnormal facies. [ispub.com]

ABNORMAL FACIES 9. THYMIC APLASIA or HYPOPLASIA Lack of embryonic development or underdevelopment od 3rd or 4th pharyngeal pouches 10. CLEFT LIP AND CLEFT PALATE 11. [slideshare.net]

“ a ” : abnormal facies ( hypertelorism, low set ear, prominent nose), “ T ” : T-cell defects (secondary to abnormal development of the thymus), “ c ” : cleft palate, “ [med.kindai.ac.jp]

This paper discusses a family presenting with features of Coffin-Lowry syndrome, namely abnormal facies, skeletal abnormalities and mental handicap. [ncbi.nlm.nih.gov]

Abstract A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short [ncbi.nlm.nih.gov]

A syndrome of mental retardation and osteocartilaginous abnormalities with peculiar facies. [accessanesthesiology.mhmedical.com]

[…] thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. [ncbi.nlm.nih.gov]

Femoral hypoplasia-unusual facies syndrome comprises malformations of the skeletal system consisting of shortened or absent bilateral femurs, variable bony sacral abnormalities [ncbi.nlm.nih.gov]

The femoral hypoplasia-unusual facies syndrome is a very rare association of femora and facial abnormalities. [ncbi.nlm.nih.gov]

Crumpled helices and small mouth 0 *Abnormalities, Multiple *Cleft Palate *Growth Disorders *Micrognathism *Facies Fingers/abnormalities Hair/abnormalities Toes/abnormalities [reference.md]

Adducted thumb and clubfoot syndrome 0 *Clubfoot *Abnormalities, Multiple Thumb/abnormalities. Bowen syndrome 0 *Abnormalities, Multiple *Contracture *Glaucoma *Facies. [reference.md]

*Abnormalities, Multiple *Dental Enamel Hypoplasia *Growth Disorders *Joint Diseases. [reference.md]

Chromosome abnormalities are involved in these disease among them chromosomes 7 and 17 are frequently involved. [medcraveonline.com]

Figure 1: The boy was appeared to be cryptorchidism, triangular facies, maxillary hypoplasia, and his height and weight are less than 3 rd percentiles. [medcraveonline.com]