A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency

We have studied a mother and son with a previously apparently undescribed syndrome of microcephaly, eye defects, small ears, mild mental deficiency, and short stature. The syndrome appears to be an autosomal or X-linked dominant trait. The cat eye syndrome, blepharophimosis or Kohn-Romano syndrome, Rieger syndrome, and other disorders are discussed in relationship to this entity.     

Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome

We describe a brother and a sister with a syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia. The parents were normal. This appears to be the second example of the syndrome first described by Lowry and Wood [1975] in two boys who had epiphyseal dysplasia, short stature, microcephaly, and nystagmus; one of these patients was mildly mentally retarded. The Lowry-Wood syndrome probably is an autosomal recessive trait.     

Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus.

This report describes two brothers with short stature, congenital nystagmus and microcephaly. The radiographic findings disclosed small, irregularly shaped epiphyses, square iliac bones and flattened acetabulae. The humeri and femora were short. The parents were normal. The syndrome is possibly X-linked, or autosomal recessive in origin.     

Syndrome of short stature,microcephaly, mental retardation,and multiple epiphyseal dysplasia—Lowry-Wood syndrome

We describe a brother and a sister with a syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia. The parents were normal. This appears to be the second example of the syndrome first described by Lowry and Wood [1975] in two boys who had epiphyseal dysplasia, short stature, microcephaly, and nystagmus; one of these patients was mildly mentally retarded. The Lowry-Wood syndrome probably is an autosomal recessive trait.     

New autosomal recessive syndrome of mental retardation,epilepsy, short stature,and skeletal dysplasia

We describe 4 sibs, 2 males and 2 females, affected with a new autosomal recessive MCA/MR syndrome of short stature, cerebral atrophy, epilepsy, skeletal abnormalities, and moderate to severe mental retardation. © Wiley-Liss, Inc.     

Hereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism.

Two teenaged children born of normal parents in a consanguineous family had evidence of abnormal neurological, endocrine, and ectodermal development. They had mental retardation, hearing loss, ocular dysmetria, hyperreflexia, and ataxia consistent with olivopontocerebellar degeneration. They had hypogonadotrophic hypogonadism and extremely short stature despite normal serum growth hormone and somatomedin-C. There was also hypodontia with peg shaped teeth and mid-face hypoplasia. This syndrome of hypoplasia of mid-lind structures appeared to be inherited as an autosomal recessive trait.     

Radio-ulnar synostosis,short stature,microcephaly, scoliosis,and mental retardation

We report on a 9-year-old boy with radioulnar synostosis, short stature, microcephaly, soliosis, and mental retardation. We propose that he has a new syndrome. © 1995 Wiley-Liss, Inc.     

Acquired alopecia, mental retardation, short stature, microcephaly, and optic atrophy.

We report on a female patient who had acquired total alopecia, short stature, microcephaly, optic atrophy, severe myopia, and mental retardation. A survey of published reports failed to show an identical patient, despite various similar cases.     

Dominant inheritance of microcephaly with short stature

A family is reported in which microcephaly has been observed in at least three generations. The pedigree is most consistent with autosomal dominant inheritance. In addition to microcephaly, affected individuals exhibit significantly short stature, ocular anomalies and simple, protruding ears. Intellectual function is in the normal or borderline range.     

Brachydactyly C,short stature,and hip dysplasia

Short stature may be a component of the brachydactyly C syndrome. A family is presented in which the propositus has brachydactyly C, short stature, and hip dysplasia.     

SAMS: Provisionally unique multiple congenital anomalies syndrome consisting of short stature,auditory canal atresia,mandibular hypoplasia,and skeletal abnormalities

We report on a young Mennonite child born with short stature, atresia of the external auditory canal, mandibular hypoplasia, and skeletal anomalies. The skeletal defects consist of bilateral humeral hypoplasia, delayed ossification of the pubic rami, and the previously unreported anomaly of humeroscapular synostosis. This girl is the product of a consanguineous mating. This phenotype is unique and does not match that of any previously described condition. Am. J. Med. Genet. 75:256–260, 1998. © 1998 Wiley-Liss, Inc.     

Syndrome of hypoparathyroidism,growth hormone deficiency,and multiple minor anomalies

A 5 1/2-year-old Saudi Arabian girl presented with a syndrome of intrauterine growth retardation, minor anomalies, hypoparathyroidism, and growth hormone deficiency. She was the product of a consanguineous mating. Her minor anomalies and delayed development were similar to findings in a previously reported Saudi Arabian patients with hypoparathyroidism and growth deficiency. There were substantial differences in findings from a series of Kuwaiti children. Parathyroid hormone was undetectable, but the renal response to infused parathyroid hormone was normal, indicating primary hypoparathyroidism. In response to arginine stimulation, her GH rose to 5.8 ng/ml (5.8 μg/L) (nl > 10), and to 2.3 ng/ml (2.3 μg/L) after L-dopa. Following clonidine it rose to 15 ng/ml (15 μg/L) at 120 minutes. She responded normally to infusions of GHRH (GH rose to 22 ng/ml (22 μg/L) at 75 minutes) and TRH (TSH rose to 37 μu/ml, 37 mlU/L). On treatment with recombinant human growth hormone, she showed an increase in height and weight. Hypocalcemia was well controlled with supplemental 1-α-cholecalciferol. © 1994 Wiley-Liss, Inc.     

Symphalangism, short stature, skeletal anomalies, and accessory testis: a new malformation syndrome.

A 17-year-old Jewish Sephardi male is described with symphalangism, short stature, multiple skeletal anomalies, and an accessory testis, which appears to be a new malformation syndrome of possible genetic aetiology.