Reported findings regarding other 7p duplications, without involvement of additional chromosomes, describe variable phenotypes, with common features including intellectual disability, hypotonia, craniofacial dysmorphism
, skeletal abnormalities, and cardiovascular malformations [1-4].
Common phenotypic features described for partial trisomy 13q are craniofacial dysmorphism
, highly arched palate, short neck, hemangioma, hexadactyly, urinary tract/kidney anomalies, umbilical/inguinal hernia, intrauterine growth retardation, and oligohydramnios. This present case involves trisomy for a large segment of proximal 13q (13q12.11 → q31.3).
ASSOCIATED ANOMALIES: The most frequently associated syndrome observed with CHAOS is Fraser syndrome which is characterized by malformations of the larynx, cryptophthalmos, syndactyly, genitourinary tract, craniofacial dysmorphism
, orofacial clefting, mental retardation, and musculoskeletal anomalies.
Physical examination revealed mild craniofacial dysmorphism
, including asymmetry of the jaw, and hypopigmentation of the skin.
arr4q27q35.2 x 3; 4q33q34--Developmental disability and arr21q22.2q22.3 craniofacial dysmorphism
x 1 4q26q27--Cardiac 3.
HCS is a multisystem disorder characterized by acro-osteolysis of distal phalanges, wormian bones, severe osteoporosis with fractures, short stature, cardiac malformations, central nervous system involvement, dental anomalies, cystic renal disease, and craniofacial dysmorphism
A new syndromic entity associated with 17q24.2 microdeletion was recently described including intellectual disability, speech delay, truncal obesity, and craniofacial dysmorphism .
External examination revealed a craniofacial dysmorphism including dolichocephaly, hypertelorism, epicanthus, proptosis, convex nasal ridge, retrognathia, micrognathia, and small and low-set ears with prominent antitragus, underfolded helix, and absence of right earlobe.
We looked for a 22q11.2 deletion in 39 Mexican patients with craniofacial dysmorphisms suggestive of DGS or VCFS and at least one major phenotypic feature, namely cardiac anomaly, immune deficiency, palatal defects or development delay (1).
All 22 deleted patients had craniofacial dysmorphisms suggestive of DGS or VCFS and at least one major phenotypic feature.
Flat nasal bridge, retrognathia, and ear abnormalities are commonly observed craniofacial dysmorphisms
. Less common craniofacial dysmorphisms
include cleft lip, cleft palate, and epicanthal folds.