Simpson-Golabi-Behmel Syndrome Associated With Cleft Palate

Morita, Yoshihiro; Kimoto, Natsuko; Ogawa, Hisashi; Omata, Tetsuji; Morita, Nobuo

doi:10.1097/scs.0b013e31822ea73c

Cited by 7 publications

(2 citation statements)

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“…In BWS, the rate of growth decreases slowly from childhood, such that the final height is within normal limits. However, in SGBS, overgrowth continues even after childhood, such that macroglossia can continue into adulthood [10] [11]. Patients with SGBS often attain a height of more than 195 cm.…”

Section: Discussionmentioning

confidence: 99%

Anesthetic Management of a Child with Simpson-Golabi-Behmel Syndrome—A Case Report

Morita¹,

Naito²,

Kimoto³

et al. 2015

OJAnes

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Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked recessive condition associated with prenatal and postnatal overgrowth with visceral and skeletal anomalies. Abnormal airway anatomy may complicate the perioperative management of SGBS. However, there have been few reports regarding the anesthetic management of children with SGBS. We present the preoperative evaluation and intraoperative management of a 1.5-year-old child with SGBS undergoing plastic surgery for cleft palate. Sevoflurane-fentanyl anesthesia without a neuromuscular blocker was planned, due to the preoperative evaluation that airway management would be complicated by the macroglossia and short neck characteristic of SGBS. Fortunately, there was no difficulty in endotracheal intubation in the present patient due to careful planning of general anesthesia and meticulous airway management. Appropriate preoperative preparation for a difficult airway by the anesthesiologist can ameliorate the difficulties inherent to the anesthetic management of patients with SGBS.

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Section: Discussionmentioning

confidence: 99%

Anesthetic Management of a Child with Simpson-Golabi-Behmel Syndrome—A Case Report

Morita¹,

Naito²,

Kimoto³

et al. 2015

OJAnes

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“…Cleft lip and/or palate is observed in about 13% of cases. The tongue is wide and with a middle groove from the tip to the back of the tongue [ 9 - 11 ] (Figure 1 ). There may be midline minor anomalies such as subcutaneous lipomas, pits or flat nevus flammeus.…”

Section: Introductionmentioning

confidence: 99%

Simpson-Golabi-Behmel syndrome types I and II

Tenorio

Arias

Martínez‐Glez

et al. 2014

Orphanet J Rare Dis

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Simpson-Golabi-Behmel syndrome (SGBS) is a rare overgrowth syndrome clinically characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, and organomegaly. Abnormalities of the skeletal system, heart, central nervous system, kidney, and gastrointestinal tract may also be observed. Intellectual disability, early motor milestones and speech delay are sometimes present; however, there are a considerable number of individuals with normal intelligence.Genomic rearrangements and point mutations involving the glypican-3 gene (GPC3) at Xq26 have been shown to be associated with SGBS. Occasionally, these rearrangements also include the glypican-4 gene (GPC4). Glypicans are heparan sulfate proteoglycans which have a role in the control of cell growth and cell division.Although a lethal and infrequent form (also known as SGBS type II) has been described, only the classical form of SGBS is reviewed in this work, whereas only some specific features on SGBS type II are commented.We review all clinical and molecular aspects of this rare disorder, updating many topics and suggest a follow-up scheme for geneticists and primary care clinicians.

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