Elongated serpentine fibulas, bowed lower legs and
forearms, bowed radii, polycystic kidneys, small stature, unusual facial
appearance, large skull and occipital depression, severe pectus excavatum,
hirsutism, and deafness but normal intelligence.
Most likely autosomal recessive; predominance
of affected females raises the possibility of X-linked dominance with
lethality in hemizygous affected males.
Clinical and radiological features. Most striking
radiological feature is the elongated and deformed S-shaped fibulae. Other
features include bowing of forearms and lower legs and metatarsus adductus.
Abdominal ultrasonography must be used to confirm the presence of polycystic kidney.
Chromosomal study is normal.
Unusual facial appearance: coarse hair, hirsute forehead and neck, marked
eyebrows, micrognathia. Skull: large skull with occipital depression in one
patient. Thorax: shield chest; pectus excavatum. Urology: polycystic kidney. Other features
include short neck, low-set ears, and deafness in some cases. Cardiac: atrial septal
defect and patent ductus arteriosus in one report. Growth: small stature in most
cases. Intelligence is normal in all cases. Renal function usually well
maintained until late.
The cardiac function must be assessed through
examination, chest radiography, ECG, and echocardiogram to rule
out cardiac defect. Assess the airway for potential difficulty if micrognathia
and short neck are present. Biochemistry screen for potassium, creatinine,
and urea to assess renal function.
Potential for difficult airway with
Considerations for cardiac defect
include prophylactic antibiotic, avoidance of air embolism, and adequate
Melnick-Needles Syndrome (MNS): Characterized by severe typical facies
(exophthalmos [frog-like eyes], full red cheeks, high forehead, micrognathia and
malalignment of teeth), flaring of the metaphyses of long bones, S-like curvature of bones
of legs, irregular constrictions in the ribs, and sclerosis of base of skull. It is
caused by mutations in the gene encoding filamin A.
Hajdu Cheney Syndrome: Characterized by
acroosteolysis, multiple wormian bones, and hypoplasia of ramus of mandible.
The presence of generalized osteoporosis and multiple fractures of the
skull, spine and digits, short stature, persistent cranial sutures, early
loss of teeth, and joint laxity are reported as features associated in
varying degrees. The patients show bathrocephaly (projection of the
occipital area and a deep groove at the lambdoidal sutures between the
occipital and parietal bones). In addition to micrognathia and narrow high
palate, prominent ears may be a feature.
Ter Haar Syndrome: Characterized by bone changes and
facial features (frog-like eyes, micrognathia), bilateral glaucoma,
congenital heart defect (ventricular septal defect), delay in closure of the
anterior fontanel and sclerosis of the base of the skull and mastoids. It is
considered an autosomal recessive disorder. Other features include
brachycephaly with flat occiput, large anterior fontanel, hypertelorism,
anteverted nostrils, thoracolumbar kyphosis, prominent coccyx with skin
fold, short hands and feet, flexion deformity of fingers, and clubfeet.
Majewski F, Enders H, Ranke M, et al: Serpentine fibula-polycystic kidney