Search results
Results From The WOW.Com Content Network
Pierre Robin sequence; Other names: Pierre Robin syndrome, Pierre Robin malformation, Pierre Robin anomaly, Pierre Robin anomalad: Infant with Pierre Robin sequence: Specialty: Medical genetics: Symptoms: Micrognathia, glossoptosis, obstruction of the upper airway, sometimes cleft palate: Usual onset: During gestation, present at birth: Causes
Signs and symptoms. This list comprises all the symptoms people with this disorder exhibit: [3] [4] Retrognathism (belonging to Pierre Robin sequence) Glossoptosis (belonging to Pierre Robin sequence) Cleft palate (belonging to Pierre Robin sequence) High forehead. Tapering fingers. Hyperconvex digital nails.
Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations (955 gly-> glu) in the COL11A2 gene (located on chromosomal position 6p21.3), which codes for the α 2 strand of collagen type XI.
A particular group of physical features, called the Pierre Robin sequence, is common in children with Stickler syndrome. Robin sequence includes a U-shaped or sometimes V-shaped cleft palate (an opening in the roof of the mouth) with a tongue that is too large for the space formed by the small lower jaw.
Catel–Manzke syndrome. Catel–Manzke syndrome is a rare genetic disorder characterized by distinctive abnormalities of the index fingers; the classic features of Pierre Robin syndrome; occasionally with additional physical findings.
Persons with Pierre Robin sequence (PRS) are at greater risk for hearing impairment than persons with cleft lip and/or palate without PRS. One study showed an average of 83% hearing loss in PRS, compared to 60% in cleft individuals without PRS (Handzic et al., 1995). Similarly, PRS individuals typically exhibit conductive, bilateral hearing ...
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome is a rare autosomal dominant genetic disorder characterized by cardiofaciodigital anomalies occurring alongside Pierre Robin sequence. Additional features include abnormal sense of smell, camptodactyly, recurrent joint dislocations, and short stature.
In the popular description, and more specifically used in maxillofacial surgery, the term “Pierre Robin” or “Pierre Robin mandible” is informally used to describe a very small lower jaw in both infants and adults. More typically, the condition of “Pierre Robin Syndrome” as used by Medicare Australia must satisfy that the patient has 1.
Pierre-Robin syndrome; Neurofibromatosis; Often colpocephaly occurs as a result of hydrocephalus. Hydrocephalus is the accumulation of cerebrospinal fluid (CSF) in the ventricles or in the subarachnoid space over the brain. The increased pressure due to this condition dilates occipital horns causing colpocephaly.
Glossoptosis is a medical condition and abnormality which involves the downward displacement or retraction of the tongue. [1] It may cause non-fusion of the hard palate, causing cleft palate . It is one of the features of Pierre Robin sequence and Down syndrome.