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TBS patients may have the following symptoms: [3] Abnormalities of the external ears (unusually large or small, unusually shaped, sometimes with sensorineural hearing loss or deafness due to lesions or dysfunctions of part of the internal ear or its nerve tracts and centers or conductive hearing loss from the external or middle ear), dysplastic ears, lop ear (over-folded ear helix ...
Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome. [5] Treatment includes supportive measures such as a device to protect the skull and dental care. [5] Surgery may be performed to fix certain bone abnormalities. [4] Life expectancy is ...
Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck. [1] In some individuals and families, renal features are completely absent. The disease may then be termed "branchio-oto syndrome" (BO syndrome). [6] [7]
Around 80% of people with primary ciliary dyskinesia experience respiratory problems beginning within a day of birth. Many have a collapsed lobe of the lung and blood oxygen low enough to require treatment with supplemental oxygen. [1] Within the first few months of life, most develop a chronic mucus-producing cough and runny nose. [1]
A port-wine stain is visible under the nose. On the right side of a cheek, capillary malformations are present. Macrocephaly-capillary malformation ( M-CM ) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous , vascular , neurologic , and limb abnormalities.
Muenke syndrome: Widely spaced eyes, enlarged head, hearing loss, flat cheeks, and low-set ears: FGFR3: Crouzon syndrome: Widely spaced eyes, short-broad head, hearing loss, bulging eyes, beaked nose, low-set ears, strabismus, protruding chin, and short humerus and femur: FGFR2 & FGFR3: Pfeiffer syndrome
Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [1] [2] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined.
Frontonasal dysplasia (FND) is a congenital malformation of the midface. [1] For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism (an increased distance between the eyes), a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele (an opening of the skull ...