Victor Escobar

Phenotypic and genetic analysis of the Silver‐Russell syndrome

A family is reported in which two half‐siblings present clinical findings suggestive of the Silver‐Russell syndrome (SRS). The available published literature on SRS is reviewed and the variable expression of the syndrome demonstrated. A review of published pedigrees of the syndrome suggests that in a small percentage of cases, SRS has a genetic etiology.

Fermoral hypoplasia-unusual facies syndrome from another viewpoint

A female infant with the “femoral hypoplasia-unusual facies” syndrome is presented. Most of the findings observed in this child have also been described in the “caudal regression syndrome”. The similarity and probable identity between these two syndromes is discussed on the basis of our patient and others from the literature.

Aarskog syndrome. New findings and genetic analysis.

A patient had several unusual findings that, to our knowledge, have not previously been reported in the Aarskog syndrome (facio-digital-genital syndrome). On the basis of published pedigrees, the data strongly support an X-linked recessive mode of inheritance.

On the classification of the acrocephalosyndactyly syndromes.

This report describes a family in which two different types of acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped heads and the facial appearance reminiscent of Crouzon disease.

The acrocephalosyndactyly syndromes: A metacarpophalangeal pattern profile analysis

Metacarpophalangeal pattern profile (MCPP) analysis was applied to patients with Pfeiffer and Chotzen syndromes, dominantly inherited types of acrocephalosyndactyly (ACS). A characteristic MCPP was obtained for the group. However, it did not discriminate between patients with Chotzen syndrome and those with Pfeiffer syndrome.

Femoral hypoplasia—unusual facies syndrome: A genetic syndrome?

A new case of femoral hypoplasia—unusual facies syndrome is presented, bringing the total number of cases in the literature to seven. A differential diagnosis involving an environmental phenocopy is presented and the etiology of the syndrome is discussed.

The human X‐chromosome and the levels of serum immunoglobulin M

The serum concentrations of immunoglobulins G, A and M were measured in a sample of 93 pairs of monozygotic twins, their spouses, and their offspring. The hypothesis that the human X‐chromosome carries genes which control the levels of immunoglobulin M was tested with three different approaches. Our results indicate that environmental factors are primarily responsible for the observed variation in the levels of IgG and IgA. The variance of IgM seems to be mostly the result of X‐linked gene effects, with women having higher IgM levels than men.

Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia.

This report describes and discusses the very rare occurrence of two heritable traits, the Saethre‐Chotzen syndrome and congenital adrenal hyperplasia (21 hydroxylase deficiency, salt‐losing type) in a female infant whose father presents the clinical manifestations of Saethre‐Chotzen syndrome. Family study revealed no other instances of the recessively inherited adrenogenital syndrome. Other literature cases combining acrocephalosyndactyly and urogenital anomalies are discussed and compared.