Proportionate Short Stature Research Articles

Two unrelated children with developmental delay, short stature and anterior chamber cleavage disorder, cerebellar hypoplasia, endocrine disturbances and tracheostenosis

Two unrelated children with developmental delay, anterior chamber-cleavage disorder, proportionate short stature and striking similarity in facial appearance appear to have an identical syndrome. Peters' plus syndrome has to be considered but additional abnormalities not described in this syndrome and their apparently different facies may be evidence for a hitherto undescribed condition. The further malformations both children have in common are cerebellar hypoplasia, hypothyroidism, tracheostenosis and dislocated hips.

New Congenital Malformation Syndrome with Severe Short Stature, Craniosynostosis, and Generalized Osseous Dysplasia in Two Siblings; New Osseous Dysplasia in Two Siblings

We present two Japanese siblings with a new congenital malformation syndrome. The patients, who are an older sister and a younger brother, were born to healthy and unrelated parents. The clinical features are characterized by proportional short stature (-5.1SD, -3.6SD), craniofacial dysmorphism related to craniosynostosis, and generalized osseous dysplasia.The skeletal changes consist of brachymesophalangy and metaphyseal dysplasia with spontaneous regression. The metaphyseal changes, which are localized in the wrists and knees, were initially cup-like radiolucencies mimicking those of rickets. The metaphyseal bony defects have been spontaneously remodeled, turning into ovoid radiolucencies and finally leaving only subtle radiolucencies at 3 or 4 years of age.GH provocation tests showed stunted response with peak serum GH of 6.7, 12.1, 1.9 ng/mL in the older sister and 7.7, 7.7, 7.9 ng/mL in the younger brother after insulin, clonidine, and I-dopa loading. The endocrinological abnormality, however, was not thought to be the cause of severe short stature in our patients.

Deletion of chromosome 2 (p11-p13): case report and review.

The case of a young man with del(2) (p11.2p13) is reported. Accounts of previous cases of deletion of the short arm of chromosome 2 are reviewed. Common features include mental...

Hunter-McAlpine syndrome

A 9-year-old girl with craniosynostosis, facial dysmorphism, mental retardation, proportionate short stature and acral abnormalities is described, in whom both clinical and radiological features support a diagnosis of Hunter-McAlpine syndrome. Her mother is mildly affected, confirming previous evidence that this syndrome is dominantly inherited and shows considerable phenotypic variability within families.

Hallermann–Streiff syndrome: A review

The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and proportionate short stature. Cause is unknown; sporadic occurrence is the rule. Data presented in this review include the characteristics of pregnancy, growth and development, principal manifestations, radiographic and ophthalmological characteristics, and the results of cephalometric study. Potential complications in the syndrome are related to the narrow upper airway associated with the craniofacial configuration. Severe complications may include early pulmonary infection, respiratory embarrassment, obstructive sleep apnea, and anesthetic risk. Topics for future study are suggested.

Unknown syndrome: proportionate short stature, mandibular prognathism, and short femoral necks

We describe a young woman with proportionate short stature, short femoral necks, limitation of wrist flexion, and a prominent mandible.

Normal variant short stature.

Human Growth hormone (HGh) deftciency is a well recognized cause of short stature and the criteria for its diagnosis is well established. ! From time to time patients not considered to be HGh deficient by the traditional criteria have been said to benefit from treatment with HGh, but have not been systematically studied. 2 Recently a group of children with short stature has been identified who, though not full'riling the usual criteria for HGh deficiency, benefit from HGh therapy. 3 This condition has recently been termed "normal variant short stature" (NVSS), a term first used by David Smith 4 and popularized by Rudman and associates. 3 The criteria for diagnosing NVSS include (i) current height and predicted adult height below the 3rd percentile, (ii) birth weight greater than 2500 gin, (iii) normal physical examination except for proportionate short stature with or without retarded bone age, (iv) no evidence of economic, psychological or nutritional deprivation, (v) average peak plasma HGh value of more than 12 ng/ml in the provocative tests, (vi) normal thyroid, adrenal and antidiuretic hormone function and (vii) a normal karyotype. 3

Normal Variant Short Stature: Subclassification Based on Responses to Exogenous Human Growth Hormone*

Normal variant short stature (NVSS), constituting about 40% of short children, is defined as height below the third percentile; negative physical/x-ray examination, except for proportionate short stature, with or without retarded bone age; birth weight greater than 2.5 kg; normal plasma immunoreactive GH response to pharmacological stimuli; and predicted adult height below the third percentile. This study investigated whether NVSS is related to peripheral resistance to GH. Twenty-eight NVSS children, aged 8–10 yr, were given human GH (0.532 U/kg BW3/4-day for 10 days). Two responses were measured: 1) the anabolic response of the soft tissues in terms of daily retention of N, P, and K and 2) the linear growth response of the skeleton in terms of the increment in height during the next 12 weeks. The anabolic and linear growth reactions were measured for comparison in nine GH-deficient children, and the anabolic responses were measured in nine normal control subjects. The GH-deficient children responded vigo...

Classification and identification of inherited brachydactylies

A search for patterns of malformation in the brachydactylies has resulted in new ways to identify the different types. Type A-1 can be characterised by a proportionate reduction of the middle phalanges. Type B is thought to be an amputation-like defect. In type C the fourth middle phalanx is usually the longest, and type E (Riccardi and Holmes, 1974) is characterised by short metacarpals and short distal phalanges. Short stature is usually present in type A-1 and type E brachydactyly (Riccardi and Holmes, 1974) and it may be present in some individuals with brachydactyly C. As short children have short hands, it is possible that in patients with very mild expressions of brachydactyly the cause of the short stature may be overlooked. It is suggested that in every child with proportionate short stature the hands should be carefully examined. If the hands are disproportionately short, if any distal creases are missing, if there is a shortening, however mild, of any finger, if any metacarpals are short, then it is important to have ϰ-rays to look for brachydactyly A-1, C, or E. Much information is still needed. It is important in future reports to have skeletal surveys, pattern profile analyses, and to note the height of children with brachydactyly C. Most interesting of all will be when fetal limbs of each type become available for study.