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Kenny-Caffey syndrome type 1 in an Egyptian girl.

Metwalley KA, Farghaly HS - Indian J Endocrinol Metab (2012)

Bottom Line: Kenny-Caffey syndrome type 1 (KCS1) (OMIM 244460) is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence.The primary outcome of KCS1 is short stature.We present here an Egyptian girl aged 32 months with typical feature of KCS1.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Pediatric Endocrinology Unit, Assiut Children University Hospital, Assiut, Egypt.

ABSTRACT
Kenny-Caffey syndrome type 1 (KCS1) (OMIM 244460) is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence. The primary outcome of KCS1 is short stature. We present here an Egyptian girl aged 32 months with typical feature of KCS1.

No MeSH data available.


Related in: MedlinePlus

Girl with Kenny-Caffey syndrome showing, depressed nasal bridge, micrognathia, upslanting, deep-set eyes and low set ears
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Figure 2: Girl with Kenny-Caffey syndrome showing, depressed nasal bridge, micrognathia, upslanting, deep-set eyes and low set ears

Mentions: A 32-month-old Egyptian girl was referred to our pediatric endocrinology unit for evaluation of poor growth. She was the second-born female child to consanguineous Egyptian parents with the other sibling being normal. She was borne at term by normal vaginal delivery in a private hospital and cried immediately at birth. Her birth weight was 1.5 kg and length was 35 cm.At the age of 12 days, she developed multifocal seizures and hypocalcemia was detected at that time. Serum parathormone (PTH) level was not checked due to lack of facilities.The seizures were controlled with intravenous calcium infusions. Later, she required calcium and alfacalcidol to maintain her calcium levels. She has been on calcium and vitamin D supplements since then. At the age of one year her weight was 4.800 kg and height was 48 cm. She was thriving poorly in spite of her good appetite.. There was no history of recurrent infection or previous hospital admission. On examination, she was found to be severely growth retarded with normal mentality, her weight was 7 kg, height 60 cm, and head circumference 38 cm (all far bellow third percentile) [Figure 1], the upper segment to lower ratio was normal, dysmorphic facies: (microcephaly, deep-set eyes, peaked nose, thin lips, micrognathia, low set ears, depressed nasal bridge) [Figure 2]. Systemic examination including the cardiovascular system was within normal limits. Ophthalmic examination did not reveal any abnormality. Investigations revealed that hemogram, liver, renal function, and urine analysis were normal. She had low total calcium 7.4 mg/dL (normal range, 8.5 mg/dL to 10.5 mg/dL), low ionized calcium 3.3 mg/dL (normal range, 4.5 mg/dL to 5.6 mg/ dL), raised serum phosphate 8.2 mg/dL (normal range, 2.4 mg/dL to 4.1 mg / dL), raised alkaline phosphatase 344 U/L (normal range, 30 U/L to 95 U/L) and low intact PTH 6.2 pg/ mL (normal range, 12 pg/mL to 72 pg/mL). Abdominal ultrasound was normal. Radiograph of long bones showed cortical thickening with medullary stenosis, and skull X-ray revealed absent diploic space in the skull bones [Figures 3 and 4], Computed tomographic scan of brain was normal. Cytogenetic and fluorescent in situ hybridization studies were normal. The diagnosis was confirmed genetically by detection of homozygous deletion of 12 bp (155-166 del) in exon 3 of the tubulin specific chaperone E gene (TBCE gene). The parents were heterozygous carriers of this mutation.


Kenny-Caffey syndrome type 1 in an Egyptian girl.

Metwalley KA, Farghaly HS - Indian J Endocrinol Metab (2012)

Girl with Kenny-Caffey syndrome showing, depressed nasal bridge, micrognathia, upslanting, deep-set eyes and low set ears
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3475915&req=5

Figure 2: Girl with Kenny-Caffey syndrome showing, depressed nasal bridge, micrognathia, upslanting, deep-set eyes and low set ears
Mentions: A 32-month-old Egyptian girl was referred to our pediatric endocrinology unit for evaluation of poor growth. She was the second-born female child to consanguineous Egyptian parents with the other sibling being normal. She was borne at term by normal vaginal delivery in a private hospital and cried immediately at birth. Her birth weight was 1.5 kg and length was 35 cm.At the age of 12 days, she developed multifocal seizures and hypocalcemia was detected at that time. Serum parathormone (PTH) level was not checked due to lack of facilities.The seizures were controlled with intravenous calcium infusions. Later, she required calcium and alfacalcidol to maintain her calcium levels. She has been on calcium and vitamin D supplements since then. At the age of one year her weight was 4.800 kg and height was 48 cm. She was thriving poorly in spite of her good appetite.. There was no history of recurrent infection or previous hospital admission. On examination, she was found to be severely growth retarded with normal mentality, her weight was 7 kg, height 60 cm, and head circumference 38 cm (all far bellow third percentile) [Figure 1], the upper segment to lower ratio was normal, dysmorphic facies: (microcephaly, deep-set eyes, peaked nose, thin lips, micrognathia, low set ears, depressed nasal bridge) [Figure 2]. Systemic examination including the cardiovascular system was within normal limits. Ophthalmic examination did not reveal any abnormality. Investigations revealed that hemogram, liver, renal function, and urine analysis were normal. She had low total calcium 7.4 mg/dL (normal range, 8.5 mg/dL to 10.5 mg/dL), low ionized calcium 3.3 mg/dL (normal range, 4.5 mg/dL to 5.6 mg/ dL), raised serum phosphate 8.2 mg/dL (normal range, 2.4 mg/dL to 4.1 mg / dL), raised alkaline phosphatase 344 U/L (normal range, 30 U/L to 95 U/L) and low intact PTH 6.2 pg/ mL (normal range, 12 pg/mL to 72 pg/mL). Abdominal ultrasound was normal. Radiograph of long bones showed cortical thickening with medullary stenosis, and skull X-ray revealed absent diploic space in the skull bones [Figures 3 and 4], Computed tomographic scan of brain was normal. Cytogenetic and fluorescent in situ hybridization studies were normal. The diagnosis was confirmed genetically by detection of homozygous deletion of 12 bp (155-166 del) in exon 3 of the tubulin specific chaperone E gene (TBCE gene). The parents were heterozygous carriers of this mutation.

Bottom Line: Kenny-Caffey syndrome type 1 (KCS1) (OMIM 244460) is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence.The primary outcome of KCS1 is short stature.We present here an Egyptian girl aged 32 months with typical feature of KCS1.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Pediatric Endocrinology Unit, Assiut Children University Hospital, Assiut, Egypt.

ABSTRACT
Kenny-Caffey syndrome type 1 (KCS1) (OMIM 244460) is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence. The primary outcome of KCS1 is short stature. We present here an Egyptian girl aged 32 months with typical feature of KCS1.

No MeSH data available.


Related in: MedlinePlus