Beckwith wiedemann syndrome

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People suffering from this syndrome present it from the moment of birth, this congenital disease is caused by genetic or epigenetic causes, related to a defect in a region of chromosome 11.

Below you have an index with all the points that we will discuss in this article.

Index

Beckwith Wiedemann syndrome

The name Beckwith Wiedemann Syndrome (SBW) is because both authors (Beckwith and Wiedemann) described the syndrome at the same time, this disease produces an increase in physical growth during the first stage of life, but the vast majority of people with SBW present a normal intellectual and physical development. It is necessary to conduct a thorough medical follow-up in the first years of life, as it is associated with a high risk of embryonic tumors.

symptom

The clinical manifestations of the Beckwith Wiedemann syndrome are very variable, there is no specific pattern of symptoms. The most frequent are:

  • High weight at birth, macrosomia.
  • Larger organs, visceromegalia.
  • Defects in the abdomen, presence of umbilical hernia or omphalocele.
  • Alterations in the external ear and furrows in the auricular lobe.
  • Large eyes
  • Large tongue size (macroglossia), sometimes protruding.
  • Hypoglycaemia, low blood sugar
  • Seizures and muscle spasms
  • Cryptorchidism, occurs when one or both testes have not descended.



Diagnosis

There is no consensus on the clinical criteria to make a diagnosis of the syndrome. Physicians usually guided in the presence of these symptoms to diagnose SBW are: tongue augmentation (macroglossia), large body size at birth, presence of furrows or pits in the ears and defects in the abdominal wall such as umbilical hernias.

Babies diagnosed with SBW who survive the period of lactation have a good prognosis, although much information is still missing on the evolution of the disease.



Treatment

Babies with hypoglycaemia are treated through an intravenous line. In addition, during the first years of life a follow-up is necessary to avoid the development of tumors, the early diagnosis of cancer increases the survival rate of these patients.

Those children with SBW with kidney problems or hemihypertrophy are 4 times more likely to develop a tumor, with 2 years being the average age at which most babies with SBW will develop a tumor.

Authors and collaborators

Cristina Mestre EmbriólogaLicenciada in Biological Sciences, Genetics and Human Reproduction by the University of Valencia (UV). Master's Degree in Biotechnology of Human Reproduction Assisted by the UV with the Valencian Institute of Infertility (IVI). Embriologist in IVI Barcelona.More informationEmbrióloga. Degree in Biological Sciences, Genetics and Human Reproduction from the University of Valencia (UV). Master's Degree in Biotechnology of Human Reproduction Assisted by the UV with the Valencian Institute of Infertility (IVI). Embryologist in IVI Barcelona..autor_box {background-color: #ececec; padding: 20px 30px; font-size: 14px;} .author_name {font-size: 16px; font-weight: bold; margin-bottom: 10px;} .author_title {margin-bottom: 10px; font-weight: bold;} .author_text {margin-bottom: 10px;} .author_box_izq {display: inline-block; vertical-align: top; width: 15%;} .author_box_dcha {display: inline-block; vertical-align: top; width: 85%;}. Author_box_dcha_sep {margin: 0 0 10px 30px} .autor_box: not (: last-child) {margin-bottom: 20px} @media screen and (max-width: 470px) {.autor_box {font-size: 16px; padding: 20px;} .author_name {font-size: 18px;} .autor_box_izq {width: 20%;} .autor_box_dcha { width: 80%;} .autor_box_dcha_sep {margin: 0 0 10px 20px}}
pgd - preimplantation genetic diagnosis in Madrid(Spain)

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