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Monosomy 2pter-p24
Deletion 2pter-p24

Presentation

Seizures are present in 50-58% of patients. Age of seizure onset is not well defined, but generally they start in infancy or childhood [9-11]. [ncbi.nlm.nih.gov]

Seizures are present in 50-58% of patients. Age of seizure onset is not well defined, but generally they start in infancy or childhood [9–11]. [ijponline.biomedcentral.com]

Figures FIG. 1 Clinical appearance of the present patient at different ages. A: In first evaluation at age of 3 years. B: In second evaluation at age 17 years of age. [pubmed.ncbi.nlm.nih.gov]

Face, Head & Neck

  • Short Nose

    nose with upturned nares, protruding upper lip, thin vermillion border of upper lip and small jaw. [ncbi.nlm.nih.gov]

Neurologic

  • Dysarthria

    The reported phenotypic anomalies are represented by microcephaly, facial dysmorphism with hypertelorism, high arched palate, long neck and trunk, thenar and hypothenar hypoplasia, microgenitalism, tetraparesis, dysarthria and sever MR, even though in [ncbi.nlm.nih.gov]

Treatment

[…] and, in many cases, psychiatric treatment was administered for several years without any improvement [39]. [ncbi.nlm.nih.gov]

Prognosis

Infantile spasms, particularly frequent in male patients, are usually associated with a poor long-term prognosis (Fig. 1) [19,51,62-65]. [ncbi.nlm.nih.gov]

Infantile spasms, particularly frequent in male patients, are usually associated with a poor long-term prognosis (Fig. 1) [19, 51, 62–65]. [ijponline.biomedcentral.com]

Etiology

Seizures in children with Down syndrome: etiology, characteristic and outcome. Dev Med Child Neurol. 1991;33:191–200. [PubMed] [Google Scholar] Stafstrom CE. Epilepsy in Down syndrome: clinical aspects and possible mechanisms. [ncbi.nlm.nih.gov]

Article Google Scholar Stafstrom CE, Patxot DF, Gilmore HE, Wisniewski KE: Seizures in children with Down syndrome: etiology, characteristic and outcome. Dev Med Child Neurol. 1991, 33: 191-200. [ijponline.biomedcentral.com]

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