Acro-callous syndrome: A case report

Lamrissi, Amine; Madri, F E; Charkaoui, M; Mourabbih, M.; Jalal, Mohamed; Bouhya, S.

doi:10.1016/j.ijscr.2022.107210

Cited by 3 publications

(2 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Preaxial polydactyly of the foot is related with other congenital anomalies and syndromes, such as craniosynostosis, renal malformations, and also corpus callosum agenesis in ACLS as seen in our patient. ACLS is an extremely rare developmental condition and only roughly forty cases have been reported globally to date [18].…”

Section: Discussionmentioning

confidence: 99%

A rare case of acrocallosal syndrome in a neonate with a history of maternal exposure to cosmetics-related chemicals

Sarmadian

Gilani

Biglari

et al. 2022

Preprint

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

A rare case of acrocallosal syndrome in a neonate with a history of maternal exposure to cosmetics-related chemicals

Sarmadian

Gilani

Biglari

et al. 2022

Preprint

View full text Add to dashboard Cite

show abstract

“…ACLS is an extremely rare developmental condition and only roughly forty cases have been reported globally to date. 14 According to the criteria established by Courtens et al in 1997, the diagnosis of ACLS can be made if at least three of the following four criteria are present: 1) Minor craniofacial abnormalities 2) Moderate to severe mental retardation with hypotonia 3) Polydactyly 4) Total or partial absence of the corpus callosum. 11 Polydactyly and agenesis of the corpus callosum and widening of the anterior fontanelle were observable in our patient, but despite the structural abnormalities of the brain, the patient's neurological exams were normal.…”

Section: Case Presentationmentioning

confidence: 99%

A case of acrocallosal syndrome in a neonate with congenital heart abnormality

Gilani¹,

Sarmadian

Karimi³

et al. 2023

IJN

View full text Add to dashboard Cite

The usual features of the acrocallosal syndrome (ACLS) are agenesis of the corpus callosum, mental retardation, prominent craniofacial deformities, and specific digital abnormalities. ACLS is a rare genetic disorder which may be autosomal recessive, however it usually occurs sporadically. A 20-day-old newborn was admitted to the pediatric clinic due to the discovery of corpus callosum agenesis during pregnancy. The fetal echocardiography revealed an ASD and moderate tricuspid regurgitation (TR). During limb assessment, right foot pre-axial polydactyly was noted, and skull exam revealed anterior fontanelle enlargement. The brain MRI showed agenesis of the corpus callosum and enlarged lateral ventricles. The parents had no consanguinity and their genetic test had shown no anomalies.The neurologist decided to monitor the neurological development of the child. The current case provides additional evidence that ACLS can be associated with pre-axial polydactyly and craniofacial symptoms including enlargement of the anterior fontanelle. Second-trimester ultrasonography can detect central nervous system malformations such as ventricular enlargement and corpus callosum anomalies. Moreover, Echocardiography is recommended to check for heart abnormalities in these children.

show abstract

Acrocallosal syndrome: Classical findings in a case report with a literature review

Chawla,

Charan

2023

CRCR

View full text Add to dashboard Cite

We present a case of a 1-day-old neonate with classical findings of acrocallosal syndrome. The child presented with difficulty in feeding. Clinically, the patient had craniofacial anomalies and digital malformations. Imaging with ultrasonography and magnetic resonance imaging revealed characteristic features of corpus callosum agenesis with dandy walker malformation. A classical case of acrocallosal syndrome with sporadic occurrence is discussed with a detailed review of all such previously reported cases in the literature till date and a discussion of possible differentials.

show abstract

Acro-callous syndrome: A case report

Cited by 3 publications

References 4 publications

A rare case of acrocallosal syndrome in a neonate with a history of maternal exposure to cosmetics-related chemicals

A rare case of acrocallosal syndrome in a neonate with a history of maternal exposure to cosmetics-related chemicals

A case of acrocallosal syndrome in a neonate with congenital heart abnormality

Acrocallosal syndrome: Classical findings in a case report with a literature review

Contact Info

Product

Resources

About