Goodman Camptodactyly

Last update 01 Nov 2024

Basic Info

Synonyms

ACPS IV, ACPS4, ACROCEPHALOPOLYSYNDACTYLY TYPE IV

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Introduction

Goodman syndrome is an extremely rare genetic disorder with characteristics of marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.

100 Clinical Results associated with Goodman Camptodactyly

100 Translational Medicine associated with Goodman Camptodactyly

0 Patents (Medical) associated with Goodman Camptodactyly

Literatures (Medical) associated with Goodman Camptodactyly

01 Jan 2023·Frontiers in endocrinology

Correlations between the expression of molecules in the TGF-β signaling pathway and clinical factors in adamantinomatous craniopharyngiomas.

Article

Author: Zhao, Peng ; Zhang, Yazhuo ; Cao, Lei ; Xiao, Youchao ; Cai, Kefan ; Gui, Songbai ; Jin, Lu ; Zhu, Haibo ; Liu, Chunhui ; Wu, WenTao ; Ru, Siming ; Li, Chuzhong ; Bai, Jiwei ; Liu, Fangzheng ; Qiao, Ning

ObjectiveTo investigate the clinical and pathological factors associated with preoperative hypothalamus invasion and postoperative outcomes of adamantinomatous craniopharyngiomas (ACPs) after the expanded endonasal approach (EEA) resection.MethodsNinety-three specimens of ACPs, consisting of 71 primary and 22 recurrent tumors, were investigated for the expression of TGF-β1, SMAD2, SMAD3, and β-catenin by immunohistochemistry staining. The clinical information of relevant patients, including the extent of resection, hypothalamus invasion, endocrinopathy, complications, and prognosis, was reviewed. The relationships between the expression of these immunopathological markers and clinical factors were analyzed.ResultsEndocrinological dysfunctions were more common in recurrent patients and primary patients with hypothalamus invasion in the comparisons. For recurrent patients, the rate of gross total resection (GTR) was significantly lower than for primary patients (63.6% vs. 90.1%, P = 0.007). According to radiological and intraoperative findings, invasive ACPs (IACPs) included 48 (67.6%) cases in primary tumors. The expression of TGF-β1 and β-catenin was significantly higher in recurrent tumors (P = 0.021 and P = 0.018, respectively) and IACPs (P = 0.008 and P = 0.004, respectively). The expression level of TGF-β1 was associated with hypothalamus involvement (Puget grade, P = 0.05; Vile grade, P = 0.002), postoperative endocrinopathy (P = 0.01), and pituitary stalk preservation (P = 0.008) in primary patients. In addition, the extent of resection, treatment history, hypothalamic invasion, and level of TGF-β1 expression had significant influences on tumor recurrence/progression after surgery separately.ConclusionOur study demonstrated the potential role of TGF-β1 in the regulation of hypothalamus invasion in ACPs and the prediction of prognosis after EEA surgery. The TGF-β signaling pathway may represent a crucial mechanism in the aggressive behavior and progression of ACPs.

18 Nov 2022·Cureus

Isolated Congenital Camptodactyly and Temporomandibular Joint Articular Disc Displacement

Author: Hoffman, Adrienne ; Norvell, Nicholas ; Moussa, Selvana ; Aponte, Christina A ; Khoury, Zaid H

The development of craniofacial structures is complex and involves multiple cellular and molecular interactions. We report a case of congenital camptodactyly in a female who subsequently developed chronic tinnitus and temporomandibular joint dysfunction. This report describes the clinicoradiographic features and surgical management of the facial skeletal manifestations, along with postoperative rehabilitation. Furthermore, a concise review of similar literature raises the question of whether this complex of manifestations represents a new entity or a minimal manifestation of a previously characterized syndrome. As such, a possible developmental association between camptodactyly and temporomandibular joint dysfunction is suggested.

01 Oct 2022·Clinical Gastroenterology and HepatologyQ1 · MEDICINE

Histology, Size, and Number of Advanced Polyps are Associated With Guideline-Discordant Surveillance Recommendations

Q1 · MEDICINE

Article

Author: Kolb, Jennifer M ; Austin, Gregory L

Surveillance guidelines following polypectomy promote cost-effective reductions in future colorectal cancer (CRC) risk, but high nonadherence rates¹ can have negative consequences on costs and effectiveness. Professional societies recommend a 3-year interval for patients with advanced colorectal polyps (ACPs), although few studies report provider adherence to surveillance intervals.² This study evaluated rates and predictors of guideline-discordant recommendations for patients with ACPs.

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Goodman Camptodactyly

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