Syndromic foramina parietalia permagna. 1998

K Chrzanowska, and K Kozlowski, and A Kowalska
Department of Genetics, Children's Memorial Health Institute, Warsaw, Poland.

We report on a boy with unique somatic and skeletal manifestations. The syndrome consists of branchial and auricular fistulae, abnormal face, and skeletal abnormalities including foramina parietalia permagna.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D009056 Mouth Abnormalities Congenital absence of or defects in structures of the mouth. Abnormalities, Mouth,Abnormality, Mouth,Mouth Abnormality
D010294 Parietal Bone One of a pair of irregularly shaped quadrilateral bones situated between the FRONTAL BONE and OCCIPITAL BONE, which together form the sides of the CRANIUM. Bone, Parietal,Bones, Parietal,Parietal Bones
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011859 Radiography Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film). Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D004423 Ear The hearing and equilibrium system of the body. It consists of three parts: the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR. Sound waves are transmitted through this organ where vibration is transduced to nerve signals that pass through the ACOUSTIC NERVE to the CENTRAL NERVOUS SYSTEM. The inner ear also contains the vestibular organ that maintains equilibrium by transducing signals to the VESTIBULAR NERVE. Vestibulocochlear System,Vestibulocochlear Apparatus,Apparatus, Vestibulocochlear,Ears,System, Vestibulocochlear
D005145 Face The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw. Faces
D005837 Genitalia, Male The male reproductive organs. They are divided into the external organs (PENIS; SCROTUM; and URETHRA) and the internal organs (TESTIS; EPIDIDYMIS; VAS DEFERENS; SEMINAL VESICLES; EJACULATORY DUCTS; PROSTATE; and BULBOURETHRAL GLANDS). Accessory Sex Organs, Male,Genital Organs, Male,Sex Organs, Accessory, Male,Genitals, Male,Reproductive System, Male,Genital, Male,Male Genital,Male Genital Organs,Male Genitalia,Male Genitals,Male Reproductive System,Male Reproductive Systems,Reproductive Systems, Male

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