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Sunday, January 06, 2008

small head, minor anomalies of the face including a thin upper lip, growth delay, and developmental disability

007. A child with a small head, minor anomalies of the face including a thin upper lip, growth delay, and developmental disability can have all of the following, except:

1. A chromosomal syndrome.

2. A teratogenic syndrome.

3. A Mendelian syndrome.

4. A polygenic syndrome.

Answer

4. A polygenic syndrome.

Reference

Nelson 15th Edition Chapter 92

Quality

Thinker

Status

New

QTDF

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Discussion

Ä Filippi syndrome is characterized by low birthweight, congenital microcephaly, broad nasal bridge, thin alae nasi, thin upper lip, soft tissue syndactyly of hands and feet, and severe mental retardation. Autosomal recessive inheritance is likely, but not proven.

Ä The characteristics of the fetal alcohol syndrome include (1) prenatal onset and persistence of growth deficiency for length, weight, and head circumference; (2) facial abnormalities, including short palpebral fissures, epicanthal folds, maxillary hypoplasia, micrognathia, and thin upper lip; (3) cardiac defects, primarily septal defects; (4) minor joint and limb abnormalities, including some restriction of movement and altered palmar crease patterns; and (5) delayed development and mental deficiency varying from borderline to severe. Fetal alcohol syndrome is a common cause of mental retardation. The severity of dysmorphogenesis may range from severely affected infants with full manifestations of the fetal alcohol syndrome to those mildly affected with only a few manifestations.

Ä Miller-Dieker Lissencephaly Syndrome (MDLS) A chromosomal syndrome of chromosome 7 represented by 46, XX, der(17)t(7;17)(p22.3;p13.2). ish der(17)(D17S379-, RARA+) presents with typical facies (bitemporal hollowing, thin downturned upper lip, micrograthia; micocephaly, high arched palate), ventricular septal defect

Ä Another chromosomal syndrome represented by 46, XY, der(7)t(2;7)(q3?;p22) de novo presents with craniosynostosis, scaphocephaly, trigonocephaly, upslanting palpebral fissures, low set & poorly lobulated ears, large mouth with thin upper lip, short neck, wide-set hypoplastic nipples, small penis, hypospadias, general hypotonia, abnormal fingers and feet, and the child died at 2.5 years of age

Explanation

1. Miller-Dieker Lissencephaly Syndrome (MDLS) is a chromosomal syndrome.

2. fetal alcohol syndrome is a teratogenic syndrome.

3. Filippi syndrome is a Mendelian syndrome.

Comments

Any how, if you search the databases, you can even find a number of polygenic syndromes with the features given above

Tips

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