OMIM : 57 Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. [malacards.org]

short stature ; Recurrent bacterial infections ; Seizures ; Short foot ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ; Thin ribs Associated Genes TBCE (Withdrawn symbols: HRD, KCS, KCS1, pac2 ) Mouse Orthologs Tbce (Withdrawn [mousephenotype.org]

Kenny–Caffey syndrome (KCS) is a rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. [ingentaconnect.com]

He was diagnosed with KCS2 based on clinical findings of proportionate short stature, medullary stenosis revealed by radiography, a widely open anterior fontanelle (Figure 2 C, skull radiograph at nine years), and hypermetropia. [docslide.com.br]

It is similar to hypoparathyroidism-retardation-dysmorphism syndrome, with the additional findings of osteosclerosis and recurrent bacterial infections. [medical-dictionary.thefreedictionary.com]

bacterial infections ; Seizures ; Short foot ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ; Thin ribs Associated Genes TBCE (Withdrawn symbols: HRD, KCS, KCS1, pac2 ) Mouse Orthologs Tbce (Withdrawn symbols: 2610206D02Rik, [mousephenotype.org]

A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS; OMIM 244460). [scienceopen.com]

bacterial infections Bacterial infections, recurrent Frequent bacterial infections Increased susceptibility to bacterial infections Recurrent major bacterial infections [ more ] 0002718 Seizures Seizure 0001250 Short palm 0004279 Slender long bone Long [rarediseases.info.nih.gov]

The convulsion was controlled by intravenous administration of Ca gluconate and magnesium sulfate until he was 15 days old. At four years of age, he again had an episode of generalized convulsion because of hypocalcaemia. [docslide.com.br]

A CT scan of the chest suggested changes compatible with chronic aspiration and no pulmonary fibrosis. [qims.amegroups.com]

He was repatriated but he gradually developed diarrhea and food intolerance with episodes of vomiting. This was associated with worsening respiratory function needing multiple hospital admissions for chest infections. [qims.amegroups.com]

Renal tubular disorders and renal stone disease 168 Clinical biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice [books.google.de]

She was the sixth-born child to consanguineous parents who had their first girl child died 24 days after birth following a story of jaundice, whereas the other siblings were normal. [ncbi.nlm.nih.gov]

She was found to have liver dysfunction with a serum aspartate aminotransferase (AST) level of 227 U/l (reference range: 2175) and serum alanine aminotransferase (ALT) level of 227 U/l (reference range: 1169). [docslide.com.br]

hands and feet, hypocalcaemia, hypoparathyroidism, radiologic evidence of cortical thickening of long bones with medullary stenosis, and absent diploic space in the skull; many die in infancy with hypocalcemic convulsions. [medical-dictionary.thefreedictionary.com]

All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. [unboundmedicine.com]

[…] rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism, small [malacards.org]

hand Disproportionately small hands 0200055 Stenosis of the medullary cavity of the long bones 0100254 Thin clavicles Thin collarbone 0006645 Thin long bone diaphyses Thin shaft of long bone 0006470 Thin ribs Slender ribs 0000883 Percent of people who [rarediseases.info.nih.gov]

Low blood calcium can cause tetany, a condition that involves muscle twitches and spasms, cramps, and stridorous (high-pitched) breathing. Seizures can also occur in KCS. [forgottendiseases.org]

Figure 1 Note the microphthalmia and the distinctive facial features including sunken nasal bridge and pointed chin. Figure 2 MRI brain performed on a 1.5T Philips Ingenia scanner. [qims.amegroups.com]

He suffered repeated acute otitis media during infancy and was affected with empyema and bacterial meningitis at four years of age. Hypogammaglobulinemia was found, and he was administered gamma globulin intermittently. [docslide.com.br]

Proportionate growth retardation (prenatal and postnatal) associated with delayed bone age is the most common feature. [accessanesthesiology.mhmedical.com]

The following are signs and symptoms of KCS: Common clinical features of KCS2 Premature ossification of the fontanels (soft spots) Macrocephaly (large head) Medullary stenosis of the long bones (see photos below) Delayed bone age Short or very short stature [forgottendiseases.org]

Radiological Cortical thickening and medullary stenosis of long bones Absent diploic space in calvaria Delayed bone age Biochemical Hypocalcemia Hypocalcemia with tetany Parathyroid hormone Low High Normal 1 1 1 2 1 1 2 2 1 2 2 1 1 1 1 2 1 1 1 2 1 1 1 [updoc.site]

bone age 13/20 65% 10/20 50% 23/40 57%Growth hormone deficiency 2/13 15%HypocalcemiaHypocalcemia 22/24 92% 25/29 86% 47/53 90%Symptomatic hypocalcemia 21/24 87% 24/29 83% 45/53 85%Congenital hypoparathyroidism 18/20 90% 16/22 73% 34/42 81%Facial featuresProminent [docslide.fr]

High baseline PaCO 2, with metabolic compensation was deemed acceptable for him (permissive hypercapnia). [qims.amegroups.com]

Gastrointestinal involvement He was also noted to have hypoparathyroidism, hypothyroidism, hyponatremia with low cortisol response needing supplements of calcium, sodium and levothyroxine and hydrocortisone during periods of stress. [qims.amegroups.com]