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Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature.

Chatterjee D - Indian J Hum Genet (2014)

Bottom Line: Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism).It is listed as a "rare disease" by the Office of Rare Diseases of the National Institutes of Health.Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity.

View Article: PubMed Central - PubMed

Affiliation: Department of Orthopaedics, Vardhaman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

ABSTRACT
Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism). It is listed as a "rare disease" by the Office of Rare Diseases of the National Institutes of Health. Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity.

No MeSH data available.


Related in: MedlinePlus

Clinical picture from the front and the sides of the left foot with anonychia, brachydactyly and syndactyly between 2nd and 3rd toe
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Figure 1: Clinical picture from the front and the sides of the left foot with anonychia, brachydactyly and syndactyly between 2nd and 3rd toe

Mentions: A 45-year-old male came for orthopedics consultation at a tertiary center with congenital absence of nails of all the toes of the left foot. On examination, the toes of the left foot were found to be short and bulbous with anonychia and syndactyly between toe 2 and 3 [Figure 1]. Similar abnormality was not observed in the hands or the right foot. No other skeletal anomaly was detected. Sexual development and higher motor function was normal. No facial anomaly was detected. Radiography revealed the absence of distal phalanx of all the toes of left foot, absence of the middle phalanx of toe 2, 3, 4 and a hypoplastic middle phalanx of little toe. Metetarsals were grossly normal [Figure 2]. Radiographs of the patella and that of bilateral hands and right foot were normal. The patient recalled the presence of similar abnormality, but involving unilateral feet in his late father (C-3 in pedigree), uncle (C-1 in pedigree) and grandfather (B-1 in pedigree). All available family members were examined. The proband was unmarried and had an unaffected brother. There was a history of consanguineous marriage in the family (B1-B2 in pedigree). The pedigree chart denotes male to male transmission with a probable autosomal dominant type of inheritance [Figure 3]. The patient's day to day activities were not compromised in any way by the anomaly and hence we chose to go with observation after explaining to the patient about the anomaly.


Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature.

Chatterjee D - Indian J Hum Genet (2014)

Clinical picture from the front and the sides of the left foot with anonychia, brachydactyly and syndactyly between 2nd and 3rd toe
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4228578&req=5

Figure 1: Clinical picture from the front and the sides of the left foot with anonychia, brachydactyly and syndactyly between 2nd and 3rd toe
Mentions: A 45-year-old male came for orthopedics consultation at a tertiary center with congenital absence of nails of all the toes of the left foot. On examination, the toes of the left foot were found to be short and bulbous with anonychia and syndactyly between toe 2 and 3 [Figure 1]. Similar abnormality was not observed in the hands or the right foot. No other skeletal anomaly was detected. Sexual development and higher motor function was normal. No facial anomaly was detected. Radiography revealed the absence of distal phalanx of all the toes of left foot, absence of the middle phalanx of toe 2, 3, 4 and a hypoplastic middle phalanx of little toe. Metetarsals were grossly normal [Figure 2]. Radiographs of the patella and that of bilateral hands and right foot were normal. The patient recalled the presence of similar abnormality, but involving unilateral feet in his late father (C-3 in pedigree), uncle (C-1 in pedigree) and grandfather (B-1 in pedigree). All available family members were examined. The proband was unmarried and had an unaffected brother. There was a history of consanguineous marriage in the family (B1-B2 in pedigree). The pedigree chart denotes male to male transmission with a probable autosomal dominant type of inheritance [Figure 3]. The patient's day to day activities were not compromised in any way by the anomaly and hence we chose to go with observation after explaining to the patient about the anomaly.

Bottom Line: Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism).It is listed as a "rare disease" by the Office of Rare Diseases of the National Institutes of Health.Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity.

View Article: PubMed Central - PubMed

Affiliation: Department of Orthopaedics, Vardhaman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.

ABSTRACT
Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism). It is listed as a "rare disease" by the Office of Rare Diseases of the National Institutes of Health. Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity.

No MeSH data available.


Related in: MedlinePlus