Distichiasis-lymphedema syndrome and the Turner phenotype.

Two unrelated females with the syndrome of distichiasis-lymphedema are presented. In both families, the autosomal dominant nature of the syndrome was evident, with multiple affected males and females. In the prepubertal period this disease may be confused with Turner or Noonan syndromes. Genetic counseling is important for this is a very crippling disease and an erroneous diagnosis of future sterility may be given to affected females. Ptosis, pterygium colli, lymphedema, cleft palate and a low posterior hairline can confuse the phenotype. A history of corneal irritation, photophobia and a need to self-pluck eyelashes may be the clue to the diagnosis. Close follow-up for associated complications, counseling and support to these families may be our contributions as clinicians in ameliorating the burden this disease brings.

[Marfan's syndrome]. / Síndrome Marfan.

We report our experience in the diagnosis, evaluation and counseling for the Marfan Syndrome in 35 individuals of 23 families. Utilizing the new clinical and diagnostic criteria, we observed that the frequency of the systems affected corresponds to those found in the literature. Presymptomatic treatment is possible, and considering the family history in the diagnosis is needed for adequate genetic counseling and the well-being of the affected patient.

Rett syndrome. The Puerto Rican experience.

We have diagnosed and followed four Puerto Rican females with Rett Syndrome (RS). Their ages, when first examined, ranged from 10 months to 11 years. The classical symptoms of decreasing head size, onset of hand wringing movements with deterioration of milestones as well as EEG abnormalities were present in all. Case No. 1, considered our index case was evaluated by us and lost to follow-up for many years while residing in the mainland U.S.A. where multiple evaluations failed to give a definite diagnosis. Upon her return to Puerto Rico she was diagnosed by us in retrospect as having RS. These are the first Puerto Rican girls reported with RS and in doing so we hope for a better understanding of the syndrome by our medical community. Because of the devastating effects of RS, early diagnosis and parental counseling will be beneficial for patients and their families.

Focal dermal hypoplasia symdrome in a male.

Focal dermal hypoplasia (Goltz syndrome) is characterized by a pathognomonic abnormality of the skin in association with other congenital defects. There are only seven males among the 52 reported cases. We report the eighth case in a male and evaluate the possible genetic origin of the syndrome. A critical review of the literature provides no evidence for the previously accepted single gene mode of inheritance.

Quinacrine fluorescence and Giemsa banding in trisomy 22.

Using quinacrine fluorescence and Giemsa banding techniques we have identified an extra chromosome 22 in three non-mongoloid children with similar phenotypes and 47 chromosomes. In one of the children, the long arm of the extra 22 was shorter than usual. This 22q-chrcmcscme was observed in 4 normal family members with 46 chromosomes. In a fourth child, with similar physical findings, the extra G chromosome was shown to be neither a normal 21 nor 22. It must have arisen from a rearrangement in a parental gamete since it was not present in either parent's karyotype.No constellation of clinical findings, in association with an extra G chromosome, is sufficient evidence for the diagnosis of trisomy 22. The positive identification of the extra chromosome must be made using fluorescence and banding.

Síndrome Marfan / Marfan's syndrome

We report our experience in the diagnosis, evaluation and counseling for the Marfan Syndrome in 35 individuals of 23 families. Utilizing the new clinical and diagnostic criteria, we observed that the frequency of the systems affected corresponds to those found in the literature. Presymptomatic treatment is possible, and considering the family history in the diagnosis is needed for adequate genetic counseling and the well-being of the affected patient

Distichiasis-lymphedema syndrome and the turner phenotype

Se presentan dos familias diferentes con el síndrome Distiquiasis-Linfedema. En ambas era evidente la herencia autosómica dominante del síndrome, con múltiples varones y hembras afectadas. Esta condición puede confundirse con los síndromes Turner y Noonan en el período prepuberal. La Consejería Genética es importante ya que la enfermedad es muy incapacitante y erróneamente puede ofrecerse un diagnóstico futuro de esterilidad a las hembras afectadas. Ptosis, pterigio colli, linfedema, paladar hendido y una inserción baja del cabello en la nuca confunden el fenotipo. Una historia anterior de irritación de la córnea, fotofobia, y la necesidad de estraer las pestañas puede ser clave del diagnóstico. Es necesario un seguimiento cercano para detectar las complicaciones asociadas. Consejería y ayuda a estas familias es nuestra contribución como clínicos para disminuir la carga que esta enfermedad conlleva