The upper lip may be "tented", exposing dental crowding, "tongue tie", or gum hypertrophy. Though the eyes do not protrude, abnormalities in the lower eyelid may give that impression. Surgery may be necessary if the eyes cannot close fully. In addition, the ears may be set low on the head or have a deformed pinna.Patients suffer from dwarfism, short lower arms, small feet, and small hands. Fingers and toes may also be abnormally short and laterally or medially bent. The thumb may be displaced and some patients, notably in Turkey, experience ectrodactyly. All patients often suffer from vertebral segmentation abnormalities. Those with the dominant variant have, at most, a single butterfly vertebra. Those with the recessive form, however, may suffer from hemivertebrae, vertebral fusion, and rib anomalies. Some cases resemble Jarcho-Levin syndrome or spondylocostal dysostosis.Genital defects characteristically seen in males include a micropenis with a normally developed scrotum and testes. Sometimes, testicles may be undescended, or the patient may suffer from hypospadias. Female genital defects may include a reduced size clitoris and underdeveloped labia minora. Infrequently, the labia majora may also be underdeveloped. Some research has shown that females may experience vaginal atresia or haematocolpos.The autosomal recessive form of the disorder tends to be much more severe. Examples of differences are summarized in the following table:

Associated conditions
Medical conditions include frequent ear infection, hearing loss, hypotonia, developmental problems, respiratory problems, eating difficulties, light sensitivity, and esophageal reflux.Data on fertility and the development of secondary sex characteristics is relatively sparse.
This includes administration of fluids, blood products, and antibiotics.Another treatment for gastric varices is injection of the varices with cyanoacrylate, first described by German surgeon Nib Soehendra and colleagues in 1986. The results from two randomized trials comparing band ligation vs cyanoacrylate suggests that endoscopic injection of cyanoacrylate, known as gastric variceal obliteration or GVO is superior to band ligation in preventing rebleeding rates. Cyanoacrylate, a common component in super glue is often mixed 1:1 with lipiodol to prevent polymerization in the endoscopy delivery optics, and to show on radiographic imaging. GVO is usually performed in specialized therapeutic endoscopy centers. Complications include sepsis, embolization of glue, and obstruction from polymerization in the lumen of the stomach.Other techniques for refractory bleeding include:
Transjugular intrahepatic portosystemic shunts (TIPS)
Balloon occluded retrograde transvenous obliteration techniques (BORTO)
Coil-Assisted Retrograde Transvenous Obliteration (CARTO)
Gastric variceal ligation, although this modality is falling out of favour
Intra-gastric balloon tamponade as a bridge to further therapy
a caveat is that a larger balloon is required to occupy the fundus of the stomach where gastric varices commonly occur
Liver transplantation

See also
Gastric antral vascular ectasia

References


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