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| Year : 1980 | Volume
: 26
| Issue : 4 | Page : 273-4 |
Seckle's syndrome. (a case report).
Barve RJ, Kamat JR, Kandoth PW
How to cite this article:
Barve R J, Kamat J R, Kandoth P W. Seckle's syndrome. (a case report). J Postgrad Med 1980;26:273 |
Seckle,[6] in 1960, described two patients with extreme microcephaly, short stature, small face and chin, prominent eyes, large ears and a beak like nose. Various terminologies like Seckle's Syndrome, bird-headed dwarfism and nanocephalic dwarfism have been used to describe this entity.[2] While reporting his original two cases, Seckle[6] cited 13 similar patients from earlier literature. Subsequently Harper et al[2] and McKusick[4] reported 10 more patients. Apart from the recent report of two sibs having striking resemblance to this entity, we could not find any such cases in the Indian literature.[6]
A. B . , a 15 month old female child, born of a consanguinous marriage [Fig. 1], was brought to us for physical and mental retardation. She had started holding head and recognizing the mother at the age of 7 months. She sat at 13 months and could stand with support momentarily when first seen by us. Her speech was limited to cooing.
She was born of a full term normal delivery and weighed 2.14 kg. at birth. There was no history suggestive of any antenatal infection including rubella. The only other female child of the parents was normal.
Our patient had severe microcephaly with the head circumference of 32 cm., less than that of a newborn infant at term. Her height was 66 cm. and weight 5.5 kg. both of which were below the 5th percentile for the age and sex. The facial features were characterised by a small chin, narrow high arched palate, large ears, prominent nose and eyes [Fig. 2]. Her hair was light-coloured. She had clinodactyly with a small middle phalanx; but no simian crease. The cleft between the first and second toes was deep.
Her development was checked on Denver Development Chart. Her performance was compatible with a 6 month old infant, except in gross motor function where she fared better like a 9 month old baby. Her hyperactivity was striking though she was not destructive.
Her karyotyping and aminoacidogram were normal. Radiologically except for a hypoplastic middle phalanx of the 5th finger of both hands, no skeletal or urogenital abnormality was detected.
Seckle's Syndrome is quite rare. Only 2 cases have been reported from India.) There is a wide variation of features in the condition. Some patients have only microcephaly and extreme short stature while others have numerous skeletal and urogenital anomalies.[4] The face reveals prominent nose which may be beak-like, large eyes, hypoplastic malar areas, small chin and microcephaly. Hypertelorism and facial asymmetry may be present. Ears are simple with no lobes. The palate is narrow and high arched. Cleft lip and cleft palate have also been reported.[1] Patient may have small hypoplastic teeth or may be edentulous.[1] Various skeletal abnormalities which may be associated with this syndrome are kyphoscoliosis,[4] short phalanges, syndactyly, absence of thumb, medial curvature of the 2nd, 4th and 5th fingers and dislocation of elbows, hips, knees and ankles. Patient may have club feet.[1], [4] Small penis and scrotum with cryptorchidism in males and small labia,[1] large clitoris with single cloacal opening[4] in females have been reported. Patients have scanty body and scalp hair.[4] They are short and weigh less than 5 lbs. at birth. They remain slender and have slow weight gain. Feeding difficulties are common. Females who survive long enough usually have late menopause.[4]
Some patients have severe mental retardation, limited speech and are unable to care for themselves, while others have IQ between 70 and 80. Though mental retardation is a characteristic feature, it is not marked as might be expected in view of very small brain.[3]
These patients have small cerebrum with simplified convolutional pattern resembling that of a chimpanzee. The kidneys also may be small and ectopic[2]
Radiological manifestations include ossification abnormalities, retarded bone age, craniosynostosis with prominent digital markings, hypoplasia of radius and upper end of fibula and 11 pairs of ribs.[2]
Because of the varied clinical picture, it is not yet established whether all these patients represent a single genetic disorder or a heterogenous group of disorders with only microcephaly and short stature in common.
The condition is transmitted in an autosomal recessive pattern or may be due to a mutant gene.
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