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Scalp-ear-nipple syndrome: a case report.

Morales-Peralta E, Andrés V, Campillo Betancourt D - Case Rep Med (2014)

Bottom Line: The scalp-ear-nipple (SEN) syndrome is an infrequent congenital disease.Its main features are scalp defects, malformed ears, and absence of nipples.Most of the reported cases are autosomal dominant.

View Article: PubMed Central - PubMed

Affiliation: National Center of Medical Genetics, 146, No. 3102, Playa, 11600 La Habana, Cuba.

ABSTRACT
The scalp-ear-nipple (SEN) syndrome is an infrequent congenital disease. Its main features are scalp defects, malformed ears, and absence of nipples. Most of the reported cases are autosomal dominant. We report on a patient suffering SEN syndrome with possible autosomal recessive inheritance. It is concluded that SEN syndrome should be recognized as an entity with genetic heterogeneity once there is evidence of different genetic manner of inheritance described in this disease.

No MeSH data available.


Related in: MedlinePlus

(a) Familiar tree. (b) The propositus: observe the following: excess of soft tissue on nasofrontal region, widely spaced teeth, cupped protruding ears, and absent nipples.
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fig1: (a) Familiar tree. (b) The propositus: observe the following: excess of soft tissue on nasofrontal region, widely spaced teeth, cupped protruding ears, and absent nipples.

Mentions: The proband was a female born through spontaneous vaginal delivery at term following an uneventful pregnancy. Her parents were cousins and she had six siblings; two of the siblings, a male and female, had almost identical pattern of congenital defects (Figure 1(a)). This sister (IV.5) had renal agenesis and died of renal failure. Her affected brother suffered a ventricular septal defect and died because of heart failure. Other relatives, including both parents, were normal. Her psychomotor development was normal, so were all of their siblings.


Scalp-ear-nipple syndrome: a case report.

Morales-Peralta E, Andrés V, Campillo Betancourt D - Case Rep Med (2014)

(a) Familiar tree. (b) The propositus: observe the following: excess of soft tissue on nasofrontal region, widely spaced teeth, cupped protruding ears, and absent nipples.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3934383&req=5

fig1: (a) Familiar tree. (b) The propositus: observe the following: excess of soft tissue on nasofrontal region, widely spaced teeth, cupped protruding ears, and absent nipples.
Mentions: The proband was a female born through spontaneous vaginal delivery at term following an uneventful pregnancy. Her parents were cousins and she had six siblings; two of the siblings, a male and female, had almost identical pattern of congenital defects (Figure 1(a)). This sister (IV.5) had renal agenesis and died of renal failure. Her affected brother suffered a ventricular septal defect and died because of heart failure. Other relatives, including both parents, were normal. Her psychomotor development was normal, so were all of their siblings.

Bottom Line: The scalp-ear-nipple (SEN) syndrome is an infrequent congenital disease.Its main features are scalp defects, malformed ears, and absence of nipples.Most of the reported cases are autosomal dominant.

View Article: PubMed Central - PubMed

Affiliation: National Center of Medical Genetics, 146, No. 3102, Playa, 11600 La Habana, Cuba.

ABSTRACT
The scalp-ear-nipple (SEN) syndrome is an infrequent congenital disease. Its main features are scalp defects, malformed ears, and absence of nipples. Most of the reported cases are autosomal dominant. We report on a patient suffering SEN syndrome with possible autosomal recessive inheritance. It is concluded that SEN syndrome should be recognized as an entity with genetic heterogeneity once there is evidence of different genetic manner of inheritance described in this disease.

No MeSH data available.


Related in: MedlinePlus