Case Report: Interstitial Deletion 21q22.13-Q22.3 in a Male Patient with Developmental Delay, Holoprosencephaly, Dysmorphic Features, and Multiple Congenital Anomalies

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

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Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies

American Journal of Medical Genetics ◽

10.1002/ajmg.1320460418 ◽

1993 ◽

Vol 46 (4) ◽

pp. 438-440 ◽

Cited By ~ 4

Author(s):

Julie L. Zenger-Hain ◽

Jacquelyn Roberson ◽

Daniel L. Van Dyke ◽

Lester Weiss

Keyword(s):

Developmental Delay ◽

Congenital Anomalies ◽

Interstitial Deletion ◽

Multiple Congenital Anomalies ◽

Chromosome 10

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De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report

BMC Medical Genetics ◽

10.1186/s12881-017-0482-8 ◽

2017 ◽

Vol 18 (1) ◽

Cited By ~ 2

Author(s):

Muna A. Al Dhaibani ◽

Diane Allingham-Hawkins ◽

Ayman W. El-Hattab

Keyword(s):

Case Report ◽

Developmental Delay ◽

Congenital Anomalies ◽

De Novo ◽

Growth Failure ◽

Facial Features ◽

Multiple Congenital Anomalies

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Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia

Frontiers in Genetics ◽

10.3389/fgene.2021.741607 ◽

2021 ◽

Vol 12 ◽

Author(s):

Jian Wang ◽

Shiyuan Zhou ◽

Fei He ◽

Xuelian Zhang ◽

Jianqi Lu ◽

...

Keyword(s):

Case Report ◽

Intellectual Disability ◽

Developmental Delay ◽

Critical Region ◽

Congenital Anomalies ◽

Clinical Symptoms ◽

Partial Trisomy ◽

Multiple Congenital Anomalies ◽

Microdeletion Syndrome ◽

Partial Monosomy

Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been infrequently reported.Conclusion: Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies.

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Novel splicing mutation in B3GAT3 associated with short stature, GH deficiency, hypoglycaemia, developmental delay and multiple congenital anomalies

Endocrine Abstracts ◽

10.1530/endoabs.51.p021 ◽

2017 ◽

Author(s):

Samuel Bloor ◽

Dinesh Giri ◽

Mohammed Didi ◽

Senthil Senniappan

Keyword(s):

Short Stature ◽

Developmental Delay ◽

Congenital Anomalies ◽

Gh Deficiency ◽

Splicing Mutation ◽

Multiple Congenital Anomalies

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Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature

Child s Nervous System ◽

10.1007/s003810050488 ◽

2000 ◽

Vol 16 (3) ◽

pp. 0176 ◽

Cited By ~ 15

Author(s):

M. C. Esmer ◽

G. Rodriguez-Soto ◽

D. Carrasco-Daza ◽

M. L. Iracheta ◽

V. Del Castillo

Keyword(s):

Case Report ◽

Congenital Anomalies ◽

In Utero ◽

Review Of The Literature ◽

Multiple Congenital Anomalies ◽

Cloverleaf Skull

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Fetal Minoxidil Exposure

PEDIATRICS ◽

10.1542/peds.80.1.120 ◽

1987 ◽

Vol 80 (1) ◽

pp. 120-120

Author(s):

FRANZ W. ROSA ◽

JUHANA IDANPAAN-HEIKKILA ◽

RITA ASANTI

Keyword(s):

Case Report ◽

Drug Administration ◽

Birth Defects ◽

Drug Safety ◽

Congenital Anomalies ◽

Drug Exposure ◽

Spontaneous Abortions ◽

Multiple Congenital Anomalies ◽

Exposure Data ◽

National Drug

To the Editor.— Kaler et al (Pediatrics 1987;79:434-436) provided a case report of hypertrichosis and multiple congenital anomalies with maternal minoxidil use. Reports such as this contribute to alerting national drug safety offices of possible teratologic questions. Maternal drug exposure data, since 1979 when minoxidil was marketed, is available to the Food and Drug Administration (FDA) from 73,000 pregnancies (15,600 birth defects, 4,400 spontaneous abortions, and 53,000 normal outcomes). This yields, in addition to the report by Kaler et al, only two other births with maternal minoxidil exposures:

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