The First Documented Iraqi Case of Jean de Grouchy Syndrome

Abstract

Background: Jean De Grouchy syndrome (18p deletion syndrome; partial monosomy 18p) is a chromosomal disorder associated with variable developmental, intellectual, dysmorphic, and neurological manifestations. Since its original description in 1963, the reported phenotype has expanded considerably. Recognition of rare chromosomal disorders remains particularly important in populations that are underrepresented in the medical literature.

Objective: To document the first identified Iraqi case of Jean de Grouchy syndrome (18p deletion syndrome) and to characterize the patient's clinical, developmental, dysmorphological, cytogenetic, and neuroimaging findings.

Patients and Methods: A 13-year-old boy was evaluated because of significant developmental and intellectual impairment and characteristic dysmorphic facial features.

A detailed clinical assessment included developmental and adaptive functioning, speech and language abilities, motor skills, behavior, and dysmorphological examination. Developmental history was obtained from the parents. Cytogenetic analysis was performed because of the combination of intellectual disability, developmental delay, and dysmorphic features. Non-contrast Computed Tomography (CT) of the brain was also performed to evaluate neurological manifestations and exclude major structural intracranial abnormalities.

Results: The patient was born to non-consanguineous parents with no reported family history of a similar disorder or known chromosomal abnormality. He demonstrated marked global developmental and adaptive impairment, severe expressive language limitation, impaired comprehension, poor adaptive skills, and dependence on others for several activities of daily living. Fine and gross motor difficulties and behavioral abnormalities were also reported.

Dysmorphological examination demonstrated a relatively long and narrow face, prominent and relatively high nasal bridge with an elongated nose, mildly down-slanting palpebral fissures, relatively large prominent ears, a mildly prominent chin and lower facial profile, and an open mouth appearance with a prominent or everted lower lip.

Chromosome analysis demonstrated a 46, XY karyotype with deletion of the short arm of chromosome 18 (18p−), establishing the diagnosis of 18p deletion syndrome. Brain CT demonstrated mild generalized cerebral/cortical volume loss, somewhat more prominent in the temporal regions, with mild associated ventricular prominence and no acute intracranial abnormality.

Conclusion: This report documents a clinically recognizable case of Jean de Grouchy syndrome (18p deletion syndrome) in Iraq. The combination of significant developmental and intellectual impairment, characteristic dysmorphic features, conventional cytogenetic confirmation of 46, XY, 18p−, and associated mild cerebral volume loss supported the diagnosis.

To our knowledge, this appears to be the first documented Iraqi case of Jean de Grouchy syndrome reported in the medical literature. The case highlights the value of careful clinical phenotyping, cytogenetic investigation, and neuroimaging in the recognition and documentation of rare chromosomal disorders.

Keywords: Jean de Grouchy Syndrome; Iraq; Rare Disorders

Citation

Aamir Jalal Al-Mosawi. The First Documented Iraqi Case of Jean de Grouchy Syndrome. WebLog J Genet Genomic Res. wjggr.2026.j1004. https://doi.org/10.5281/zenodo.23337909